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Sample records for branchio-oto-renal syndrome result

  1. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.

    NARCIS (Netherlands)

    Kemperman, M.H.; Stinckens, C.I.C.; Kumar, S.; Huygen, P.L.M.; Joosten, F.B.M.; Cremers, C.W.R.J.

    2001-01-01

    OBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. STUDY DESIGN: Longitudinal case study. SETTING: Tertiary referral center. PATIENT

  2. Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

    OpenAIRE

    Kameswaran, Mohan; Kumar, R. S. Anand; Murali, Sathiya; Raghunandhan, S.; Karthikeyan, K.

    2007-01-01

    Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identifi...

  3. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  4. Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family

    DEFF Research Database (Denmark)

    Henriksen, Ann Marie; Tümer, Zeynep; Tommerup, Niels;

    2004-01-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by variable clinical manifestations including branchial fistulae, preauricular pits, ear malformations, hearing impairment, and renal anomalies. BOR is caused by mutations in the genes EYA1 and SIX1. A Danish BOR...... family with five affected individuals in three generations was analyzed for mutations in all 17 exons of EYA1 using direct sequencing of polymerase chain reaction (PCR) amplified genomic DNA. A novel splice-site mutation (IVS9+1 G>C) was detected in all affected family members but not in unaffected...... family members or in 96 controls. We conclude that this mutation is causing BOR in the family, most likely as a result of haploinsufficiency or an abnormal protein product caused by aberrant splicing of EYA1 mRNA....

  5. [Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].

    Science.gov (United States)

    Amrhein, P; Sittel, C; Spaich, C; Kohlhase, J; Boppert, R; Kohlhof, P; Koitschev, A

    2014-05-01

    Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required. PMID:23868653

  6. Branchio-oto-renal syndrome plus; a contiguous gene constellation of congenital anomalies?

    Energy Technology Data Exchange (ETDEWEB)

    Kelly, T.E. [Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)

    1994-09-01

    A term female infant was referred to the University Hospital because of respiratory distress secondary to bilateral choanal stenosis. Her examination revealed bilateral pre-auricular pits, branchial fistulae, cupped shaped ears, and bilateral athelia. She failed ABR screening; her creatinine was elevated to 1.5 mgs% and renal ultra-sonography showed reduced kidney size bilaterally. She was the product of her mother`s third pregnancy. The first produced a now normal 5 year old son. The second pregnancy was complicated by oligohydramnios and resulted in a premature delivery at 27 weeks gestation. The infant expired secondary to pulmonary hypoplasia. The mother had bilateral neurosensory deafness, pre-auricular pits, cupped shaped ears, lacrimal stenois and bilateral athelia. She wore dentures having earlier been diagnosed with dentogeneis imperfecta. She was shorter than her three normal sisters and had experienced academic problems throughout her school years. The maternal grandfather had an adult onset neurosensory hearing loss, but he and the maternal grandmother exhibited no other features of the BOR syndrome. Althelia was present only in the mother and daughter. The mother clearly has BOR syndrome transmitted to one, and possibly two, of her three offspring. The additional features of athelia, choanal stenosis and dentogenesis imperfecta are thought to represent additional autosomal dominant traits. Greenberg described an infant with athelia and choanal atresia. By family linkage studies, the BOR syndrome has been mapped to 8q13-21 with no recombination observed with loci D8S530 and D8S279. Given a normal prophase karyotype in the proband, it is speculated that a sub-microscopic deletion at 8q13-21 is the likely basis for the constellation of birth defects seen in this mother and daughter. Analysis of D8S530 and D8S279 is currently underway in this family.

  7. Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.

    Directory of Open Access Journals (Sweden)

    Mee Hyun Song

    Full Text Available BACKGROUND: Branchio-oto-renal (BOR or branchio-otic (BO syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation. METHODS: The audiologic manifestations were reviewed in 10 patients with BOR/BO syndrome. The operative findings and hearing outcome were analyzed in patients who underwent middle ear surgeries. The modality and outcome of auditory rehabilitation were evaluated. Genetic analysis was performed for EYA1, SIX1, and SIX5 genes. RESULTS: All patients presented with mixed hearing loss. Five patients underwent middle ear surgeries without successful hearing gain. Cochlear implantation performed in two patients resulted in significant hearing improvement. Genetic analysis revealed four novel EYA1 mutations and a large deletion encompassing the EYA1 gene. CONCLUSIONS: Auditory rehabilitation in BOR/BO syndrome should be individually tailored keeping in mind the high failure rate after middle ear surgeries. Successful outcome can be expected with cochlear implantations in patients with BOR/BO syndrome who cannot benefit from hearing aids. The novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.

  8. First and second branchial arch syndromes: multimodality approach

    International Nuclear Information System (INIS)

    First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches. They represent the second most common craniofacial malformation after cleft lip and palate. Extended knowledge of the embryology and anatomy of each branchial arch derivative is mandatory for the diagnosis and grading of different BAS lesions and in the follow-up of postoperative patients. In recent years, many new complex surgical approaches and procedures have been designed by maxillofacial surgeons to treat extensive maxillary, mandibular and external and internal ear deformations. The purpose of this review is to evaluate the role of different imaging modalities (orthopantomogram (OPG), lateral and posteroanterior cephalometric radiographs, CT and MRI) in the diagnosis of a wide spectrum of first and second BAS, including hemifacial microsomia, mandibulofacial dysostosis, branchio-oto-renal syndrome, Pierre Robin sequence and Nager acrofacial dysostosis. Additionally, we aim to emphasize the importance of the systematic use of a multimodality imaging approach to facilitate the precise grading of these syndromes, as well as the preoperative planning of different reconstructive surgical procedures and their follow-up during treatment. (orig.)

  9. First and second branchial arch syndromes: multimodality approach

    Energy Technology Data Exchange (ETDEWEB)

    Senggen, Elodie; Laswed, Tarek; Meuwly, Jean-Yves; Maestre, Leonor Alamo; Meuli, Reto; Gudinchet, Francois [University Hospital of Lausanne, Radiology Department, Lausanne (Switzerland); Jaques, Bertrand [University Hospital of Lausanne, Department of Otorhinolaryngology, Lausanne (Switzerland)

    2011-05-15

    First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches. They represent the second most common craniofacial malformation after cleft lip and palate. Extended knowledge of the embryology and anatomy of each branchial arch derivative is mandatory for the diagnosis and grading of different BAS lesions and in the follow-up of postoperative patients. In recent years, many new complex surgical approaches and procedures have been designed by maxillofacial surgeons to treat extensive maxillary, mandibular and external and internal ear deformations. The purpose of this review is to evaluate the role of different imaging modalities (orthopantomogram (OPG), lateral and posteroanterior cephalometric radiographs, CT and MRI) in the diagnosis of a wide spectrum of first and second BAS, including hemifacial microsomia, mandibulofacial dysostosis, branchio-oto-renal syndrome, Pierre Robin sequence and Nager acrofacial dysostosis. Additionally, we aim to emphasize the importance of the systematic use of a multimodality imaging approach to facilitate the precise grading of these syndromes, as well as the preoperative planning of different reconstructive surgical procedures and their follow-up during treatment. (orig.)

  10. Hereditary Hearing Loss.

    Science.gov (United States)

    Tran, LenhAnh P.; Grundfast, Kenneth M.

    1997-01-01

    This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

  11. Genetic and bibliographic information: EYA1 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available al Abnormalities (C16.131) > Chromosome Disorders (C16.131.260) > Branchio-Oto-Renal Syndrome (C16.131.260.0...90) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Chromosome Disorders

  12. A systematic search for linkage with nonsyndromic recessive deafness in two large Middle Eastern inbred kindreds excludes more than 30% of the genome

    Energy Technology Data Exchange (ETDEWEB)

    Weiss, S.; Korostishevsky, M. [Sackler Faculty of Medicine, Ramat-Aviv (Israel); Frydman, M. [Haim Sheba Medical Center, Tel-Hashomer (Israel)] [and others

    1994-09-01

    It has been estimated that as many as 35 loci may individually cause autosomal recessive non-syndromic deafness. The extreme genetic heterogeneity, limited clinical differentiation and phenotypic assortative mating in many western countries make many families unsuitable for genetic linkage studies. Recently the first of those loci was mapped (to 13q) in two consanguineous families from northern Tunisia. We are studying two large highly consanguineous Middle Eastern kindreds (a total of 26 deaf in 98 sampled individuals). Examination in each family showed no evidence of clinical heterogeneity and indicated an uncomplicated profound bilateral sensorineural deafness. We have been able to exclude the 13q locus as the cause of deafness in each kindred and have also excluded such `candidate` loci as regions as those causing Usher`s syndrome type 1 (11q13)(11p), Usher`s syndrome type II (1q32-q41), Waardenburg syndrome type I (2q37), branchio-oto-renal syndrome (8q12-q13), Monge`s deafness (5q31), and Treacher Collins syndrome (5q31.3-q33.3). To date, no lod scores greater than 1 have been obtained in either kindred using 150 RFLT`s, VNTR`s and highly polymorphic microsatellite markers (CA repeats and tetranucleotides). By Morton`s criterion a minimum of 30% of the autosomal genome can be excluded for each kindred separately.

  13. Compartment Syndrome Resulting from Carbon Monoxide Poisoning.

    Science.gov (United States)

    Serbest, Sancar; Belhan, Oktay; Gürger, Murat; Tosun, Haci Bayram

    2015-12-01

    Every year, especially in the cooler Fall and Winter months, hundreds of people die because of carbon monoxide poisoning. This occurs usually as an accident. It is a significant cause of poisoning worldwide. We present a case of compartment syndrome in both lower extremities with accompanying acute renal failure and systemic capillary leakage syndrome because of carbon monoxide poisoning. PMID:26588033

  14. Results of radiotherapy of Duplay's syndrome

    International Nuclear Information System (INIS)

    The observed patient group comprised 185 persons who underwent treatment during 1970 and 1976. The sexual distribution within this group is normal. The age peak ranges between 50 and 60 years. In a late inquiry 31.9% of the patients can indicate the freedom from pain. 29.2% tell about a good, 18.4% about moderate success. In about one half of the treated persons roentgenologically visible calcareous deposits were detected. In both groups their treatment led to an equally good result. However, an accumulation of diseases with calcifications is found in patients who were younger than 50 years. In acute cases without previous treatment the achieved result was better than in those who had been treated already elsewhere. Acute cases respond considerably better to the treatment than the chronicaal ones. For the acute cases also a notably inferior recidivity rate was found. In 38% of all cases recidivation was observed. For the acute cases this rate is only 16%. Although investigations exist which do not hint at an autonomous course of this disease, a therapeutic treatment is not considered as superfluous. Considering the known risks due to ionizing irradiation, radiotherapy of periarticular fibrositis is recommended particularly for patients older than 40 years. (orig./MG)

  15. Recurrent hydramnios as a result of fetal Bartter′s syndrome (a case report.

    Directory of Open Access Journals (Sweden)

    Shah M

    1991-04-01

    Full Text Available Bartter′s syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter′s syndrome on both occasions is presented.

  16. Varfarin in the complex treatment of antiphospholipid syndrome: preliminary results

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    T M Reshetnyak

    2003-01-01

    Full Text Available Objective. To assess efficacy and tolerance of varfarin in prophylaxis and therapy of thrombotic complications in patients with antiphospholipid syndrome (APS. Methods. 20 pts with APS (5 male and 15 female received varfarin during a year. 8 of them had primary APS (PAPS and 12 -systemic lupus erythematosus with APS (SLE+APS. 2 other pts (I with SLE+APS and I with PAPS received varfarin during the last 4 years. Nobody from 9 pts with PAPS received corticosteroids (CS. In SLE+APS pts CS dose varied from 4 to 20 mg/day and was not increased during follow up. During the study prothrombine time (PT was examined with thromboplastin ( manufactured by Renam having international sensitivity index 1,2 and international normalization relation (INR. Depending on treatment scheme APS pts were divided into 3 groups. Group 1 included 8 pts with INR<2,0, Group 2-7 with INR >3,0, group 3 - 7 pts with INR<2,0 receiving as additional treatment thrombo ASS 100 mg/day and vasonit from 600 to 1200 mg/day. Results. Two pts with INR = 1,8 had thrombosis recurrence (due to leg thrombophlebitis. There were no recurrences in other groups. 2 from 22 pts had "large" bleedings. "Small" bleedings episodes were noted in 7 from 22 pts. Largely that were subcutaneous bleedings (in 4 pts no more than 5 cm of size. Two pts receiving varfarin with INR 1,8 and 2,4 had renal colic. Conclusion. Our preliminary results prove the necessity of inclusion of varfarin in the treatment of pts with APS and thrombosis but intensive anticoagulant effect is not always desired.

  17. An overlooked cause of resistant hypertension: upper airway resistance syndrome - preliminary results

    OpenAIRE

    Muntecep Asker; Selvi Asker; Ugur Kucuk; Hilal Olgun Kucuk

    2014-01-01

    OBJECTIVE: Upper airway resistance syndrome is a sleep-disordered breathing syndrome that is characterized by repetitive arousals resulting in sympathetic overactivity. We aimed to determine whether upper airway resistance syndrome was associated with poorly controlled hypertension. METHODS: A total of 40 patients with resistant hypertension were enrolled in the study. All of the patients underwent polysomnographic examinations and 24-hour ambulatory blood pressure monitoring to exclude whi...

  18. An overlooked cause of resistant hypertension: upper airway resistance syndrome - preliminary results

    OpenAIRE

    Asker, Muntecep; Asker, Selvi; Kucuk, Ugur; Kucuk, Hilal Olgun

    2014-01-01

    OBJECTIVE: Upper airway resistance syndrome is a sleep-disordered breathing syndrome that is characterized by repetitive arousals resulting in sympathetic overactivity. We aimed to determine whether upper airway resistance syndrome was associated with poorly controlled hypertension. METHODS: A total of 40 patients with resistant hypertension were enrolled in the study. All of the patients underwent polysomnographic examinations and 24-hour ambulatory blood pressure monitoring to exclude white...

  19. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

    Science.gov (United States)

    Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazıcıoğlu, Mümtaz M.; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Cinaz, Peyami

    2015-01-01

    Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients. PMID:26831551

  20. Metabolic syndrome in rheumatoid arthritis: role of adiponectin (preliminary results

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    Yulia Nikolaevna Gorbunova

    2013-01-01

    Full Text Available The clinical value of the disorders and diseases integrated within the metabolic syndrome (MS is in the combination of traditional risk factors for cardiovascular diseases (CVD, which significantly accelerates the development of cardiovascular events (CVEs. The detection rate for MS in patients with rheumatoid arthritis (RA is shown to be higher than in the controls regardless of the diagnostic criteria for MS. At present, there are confusing data on the role of adipokins in RA. Objective: to determine the rate of MS and its components in RA patients and the association of the level of adipokin (adiponectin with the components of MS in relation to the duration of RA. Subjects and methods: The investigation enrolled 69 RA patients divided into two groups: 1 34 patients with early-stage (<2-year RA and 2 35 patients with end-stage (>2-year RA. Results. MS occurred in 12 (17.4% of the 69 patients with RA. There was central (abdominal obesity in 37 (53.6% patients with RA, hypertension in 29 (42%, low high-density cholesterol levels in 20 (29%, hyperglycemia in 11 (15.9%, and hypertriglyceridemia in 10 (14.5%. According to the presence or absence of MS, the patients were divided into 2 groups: 1 12 patients with MS; 2 57 without MS. In the patients with RA and MS, the duration of the disease was shorter; DAS28 and CDAI were higher than in those without MS: 15.4 [7; 24] months versus 51.8 [6; 72] months; DAS28 was 5.8 [4.9; 6.7] scores versus 5.1 [4.5; 5.8] scores; CDAI: 34.8 [21.8; 41.4] scores versus 24.2 [18; 31] scores, respectively (p < 0.05 in all cases. The serum level of adiponectin was lower: 13.1 [5.7; 10.7] ng/ml versus 20.6 [6.9; 30.9] ng/ml in the patients with RA and MS as compared to those without MS; but there were no significant differences. In the patients with early-end RA, the rate of MS was twice higher than that in those with end-stage RA; however, the differences were statistically insignificant (p = 0.1. The components of MS

  1. [Indications and results of vitrectomy in Terson syndrome].

    Science.gov (United States)

    Nacef, Leila; Zghal-Mokni, Imen; Allagui, Ikram; Haba, Badreddine; Daghfous, Fethi; Gaigi, Sadok; Jeddi, Amel; Ayed, Saida

    2004-05-01

    Terson syndrome or vitreal hemorrhage associated with subdural hemorrhage is a rare condition. The goal of our work through a retrospective series of 3 cases (4 eyes) is to study clinical characteristics as well as adequate moment of surgery. All our patients had unilateral or bilateral visual impairement secondary to cerebral lesion. Ophtalmologic exam showed an intravitreal hemorrhage. Two of our patients were operated by vitrectomy, the third case had a spontaneous resorption of intravitreal hemorrhage and no surgery was performed. Functional prognosis depends on neuro-ophtalmologic sequellas. Ophtalmic exam is essential in cerebral hemorrhage. For intravitreal hemorrhage spontaneous resorption is frequent and vitrectomy must be delayed. PMID:15453050

  2. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

    OpenAIRE

    Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazıcıoğlu, Mümtaz M.; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre

    2015-01-01

    Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height a...

  3. [Progress in the study of syndromic hearing loss resulted from neural crest abnormalities].

    Science.gov (United States)

    Yalan, Liu; Hua, Zhang; Yong, Feng

    2014-11-01

    More than 400 types of syndromic hearing loss (SHL) have been reported so far, in which Waardenburg syndrome (WS), congenital microtia syndrome (CMS), and large vestibular aqueduct syndrome (LVAS) are the most common ones in clinic. However, it is difficult to study the genetic basis and pathogenesis of SHL in a systematical way because of the strong clinical and genetic heterogeneity of SHL. Dysfunction of neural crest cells (NCC), which are caused by the gene interaction network extended from SOX10 and PAX3, are relevant to the phenotype of WS, CMS and LVAS. Our previous study also confirmed that the gene network was involved in the pathogenesis of WS. In this review, we summarize research progress in the pathogenic mechanisms of SHL resulted from defects in neural crest decelopment, and provide the gene interaction network of neural crest abnormalities resulting in SHL, and hope to provide research ideas and theoretical basis for the systematical study on pathogenesis of common SHL. PMID:25567871

  4. Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey

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    Stefan Mariana

    2010-12-01

    Full Text Available Abstract Objective To analyze the prevalence of diagnosed and suspected autoinflammatory diseases in Eastern and Central European (ECE countries, with a particular interest on the diagnostic facilities in these countries. Methods Two different strategies were used to collect data on patients with periodic fever syndromes from ECE countries- the Eurofever survey and collection of data with the structured questionnaire. Results Data from 35 centers in 14 ECE countries were collected. All together there were 11 patients reported with genetically confirmed familial Mediterranean fever (FMF, 14 with mevalonate-kinase deficiency (MKD, 11 with tumor necrosis factor receptor associated periodic syndrome (TRAPS and 4 with chronic infantile neurological cutaneous and articular syndrome (CINCA. Significantly higher numbers were reported for suspected cases which were not genetically tested. All together there were 49 suspected FMF patients reported, 24 MKD, 16 TRAPS, 7 CINCA and 2 suspected Muckle-Wells syndrome (MWS patients. Conclusions The number of genetically confirmed patients with periodic fever syndromes in ECE countries is very low. In order to identify more patients in the future, it is important to organize educational programs for increasing the knowledge on these diseases and to establish a network for genetic testing of periodic fever syndromes in ECE countries.

  5. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

    OpenAIRE

    Kohlhase, J; Schubert, L.; Liebers, M; Rauch, A; Becker, K.; Mohammed, S; Newbury-Ecob, R.; REARDON, W.

    2003-01-01

    We have recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene SALL4 on chromosome 20q13.13-13.2. There is considerable overlap of clinical features of Okihiro syndrome with other conditions, most notably Holt-Oram syndrome, a condition in part resulting from mutation of the TBX5 locus, as well as acro-renal-ocular syndrome. We analysed further families/patients with the clinical diagnosis of Holt-Oram syndrome and acro-renal-ocular sy...

  6. [3-phase scintigraphy in the Sudeck syndrome. Comparison with the results of roentgenologic and clinical studies].

    Science.gov (United States)

    Koppers, B

    1982-11-01

    37 patients with clinically and radiologically proved reflex sympathetic dystrophy syndrome were scintigraphed by 99mTc-MDP (three-phase-scintigraphy). In 87% of the examinations (all three-phases) an increased tracer accumulation in the region of the affected limb could be seen scintigraphically. The majority of the positive results (92% resp. 87%) were found in the interval phase (phase II) and the late phase (phase III) of the scintigraphic examinations.--We recommend a staging of the increase of the tracer accumulation when examining the reflex sympathetic dystrophy syndrome. This staging doesn't significantly correlate with the familiar clinical and radiological stagings. However it may be useful when assessing the course of the syndrome.--Increased tracer accumulations could be observed in the case of clinically, radiologically and scintigraphically manifest reflex sympathetic dystrophy syndrome in the region of the foot, frequently in the ipsilateral knee region, rarely in the ipsilateral hip joint region, although clinically the syndrome could not be observed in these regions. PMID:6184293

  7. Acute compartment syndrome of hand resulting from radiographic contrast iohexol extravasation

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    Kolar Vishwanath Vinod

    2016-01-01

    Full Text Available Intravenous (IV administration of iodinated contrast agents (ICAs is frequently employed for image enhancement while performing radiographic studies such as computed tomography and angiography. Complications related to IV administration of ICAs such as immediate hypersensitivity reactions and nephrotoxicity are well-known. However, severe skin and soft tissue injuries and acute compartment syndrome resulting from contrast extravasation are rare. This is especially so with small volume extravasation of a low osmolar, nonionic ICA such as iohexol. Here, we report a 63-year-old woman who developed acute compartment syndrome of left hand following iohexol extravasation and had swelling, blistering, cutaneous and soft tissue necrosis. She underwent fasciotomy for acute compartment syndrome of hand and later surgical debridement of necrotic skin and soft tissues was carried out. Clinical pharmacology of ICAs, extravasation injuries following their IV administration, their management and measures to reduce them are discussed in brief.

  8. Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.

    Science.gov (United States)

    Hitch, Kelly; Joseph, Galen; Guiltinan, Jenna; Kianmahd, Jessica; Youngblom, Janey; Blanco, Amie

    2014-08-01

    Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return results to patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative Lynch syndrome genetic results through traditional molecular testing methods participated in semi-structured interviews after WES testing but before return of results to explore their views of WES and preferences for return of results. Analyses of interview results found that nearly all participants believed that the benefits of receiving all possible results generated from WES outweighed the undesirable effects. The majority of participants conveyed that relative to coping with a cancer diagnosis, information generated from WES would be manageable. Importantly, participants' experience with Lynch syndrome influenced their notions of genetic determinism, tolerance for uncertain results, and family communication plans. Participants would prefer to receive WES results in person from a genetic counselor or medical geneticist so that an expert could help explain the meaning and implications of the potentially large quantity and range of complicated results. These results underscore the need to study various populations with regard to the clinical use of WES in order to effectively and empathetically communicate the possible implications of this new technology and return results. PMID:24449059

  9. Treating metabolic syndrome's metaflammation with low level light therapy: preliminary results

    Science.gov (United States)

    Yoshimura, Tania M.; Kato, Ilka T.; Deana, Alessandro M.; Ribeiro, Martha S.

    2014-02-01

    Metabolic syndrome comprises a constellation of morbidities such as insulin resistance, hyperinsulinemia, atherogenic dyslipidemia, dysglycemia and obesity (especially abdominal). Metabolic alterations are observed in major insulin target organs, increasing the risk of cardiovascular diseases, type-2 diabetes and therefore mortality. Tissue alterations are characterized by immune cells infiltrates (especially activated macrophages). Released inflammatory mediators such as TNF-α induce chronic inflammation in subjects with metabolic syndrome, since inflammatory pathways are activated in the neighboring cells. The intra-abdominal adipose tissue appears to be of particular importance in the onset of the inflammatory state, and strategies contributing to modulate the inflammatory process within this adipose tissue can mitigate the metabolic syndrome consequences. Considering the low level light therapy (LLLT) recognized benefits in inflammatory conditions, we hypothesized this therapeutic approach could promote positive effects in modulating the inflammatory state of metabolic syndrome. That being the scope of this study, male C57BL/6 mice were submitted to a high-fat/high-fructose diet among 8 weeks to induce metabolic syndrome. Animals were then irradiated on the abdominal region during 21 days using an 850 nm LED (6 sessions, 300 seconds per session, 60 mW output power, ~6 J/cm2 fluence, ~19 mW/cm2 fluence rate). Before and during treatment, blood was sampled either from the retroorbital plexus or from tail puncture for glucose, total cholesterol and triglycerides analysis. So far our results indicate no alterations on these metabolic parameters after LLLT. For further investigations, blood was collected for plasma inflammatory cytokine quantification and fresh ex vivo samples of liver and intra-abdominal adipose tissue were harvested for immunohistochemistry purposes.

  10. Lithium Toxicity and Neurologic Effects: Probable Neuroleptic Malignant Syndrome Resulting from Lithium Toxicity

    OpenAIRE

    Osamede Edokpolo; Madiha Fyyaz

    2012-01-01

    Introduction. We present the case of a patient who developed lithium toxicity with normal therapeutic levels, as a result of pharmacokinetic interaction with Valsartan, and probable Neuroleptic Malignant Syndrome from the ensuing lithium toxicity. Case Presentation. A 59-year old black male with bipolar disorder maintained on lithium and fluphenazine therapy presented with a 2 week history of worsening confusion, tremor, and gait abnormality. He recently had his dose of Valsartan increased. A...

  11. Surgical treatment results of hand deformities in patients with Apert syndrome

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    Ufuk Nalbantoglu

    2015-12-01

    Results: The mean age at the first operation was 2.7 years and the mean number of operations was 3 per patient. No patient developed graft-flap necrosis and no patients required amputations. All patients were able to perform grasping and pinching functions and families were satisfied with the cosmetic results. Conclusion: Using a two-stage surgical protocol, achieving satisfactory results with a minimal number of operations is possible in patients with Apert Syndrome. [Hand Microsurg 2015; 4(3.000: 53-57

  12. Effects of acupuncture for chronic pelvic pain syndrome with intrapelvic venous congestion. Preliminary results

    International Nuclear Information System (INIS)

    The present study was designed to reveal the usefulness of acupuncture for chronic pelvic pain syndrome with intrapelvic venous congestion as evaluated by symptom scores, transrectal ultrasonography (TRUS) and magnetic resonance (MR) venography. Ten male patients suffering from non-inflammatory chronic pelvic pain syndrome (National Institutes of Health (NIH) category IIIB) with intrapelvic venous congestion were treated using acupuncture. Eight patients had previously received pharmacotherapy, which was unsuccessful. Acupuncture was performed using disposable stainless steel needles, which were inserted into the bilateral BL-33 points and rotated manually for 10 min. The treatment was repeated every week for 5 weeks without other therapeutic maneuvers. Results from TRUS and MR venography, as well as clinical symptoms based on the NIH chronic prostatitis symptom index (NIH-CPSI) and the international prostate symptom score (IPSS), were compared before and after the treatment. No side-effects were recognized throughout the treatment period. The average pain and quality of life (QOL) scores of the NIH-CPSI 1 week after the 5th acupuncture treatment decreased significantly (P<0.05 and P<0.01, respectively) compared with the baseline. The maximum width of the sonolucent zone 1 week after the 5th treatment also decreased significantly (P<0.01, compared with the baseline). Intrapelvic venous congestion demonstrated by MR venography was significantly improved in four patients. This study provided novel information concerning the therapeutic effects of acupuncture on non-inflammatory chronic pelvic pain syndrome. (author)

  13. Severe neonatal marfan syndrome resulting from a De Novo 3-bp insertion into the fibrillin gene on chromosome 15

    Energy Technology Data Exchange (ETDEWEB)

    Milewicz, D.M.; Duvic, M. (Univ. of Texas Medical School, Houston, TX (United States))

    1994-03-01

    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. The authors studied an infant with severe neonatal Marfan syndrome. Dermal fibroblasts were metabolically labeled and found to secrete fibrillin inefficiently when compared with control cells. Reverse transcription and amplification of the proband's fibroblast RNA was used to identify a 3-bp insertion between nucleotides 480-481 or 481-482 of the fibrillin cDNA. The insertion maintains the reading frame of the protein and inserts a cysteine between amino acids 160 and 161 in an epidermal growth-factor-like motif of fibrillin. This 3-bp insertion was not found in the fibrillin gene in 70 unrelated, unaffected individuals and 11 unrelated individuals with the Maran syndrome. The authors conclude that neonatal Marfan syndrome is the result of mutations in the fibrillin gene on chromosome 15 and is part of the Marfan syndrome spectrum. 32 refs., 3 figs.

  14. Cardiac Defects and Results of Cardiac Surgery in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Carotti, Adriano; Digilio, Maria Cristina; Piacentini, Gerardo; Saffirio, Claudia; Di Donato, Roberto M.; Marino, Bruno

    2008-01-01

    Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic…

  15. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

    Science.gov (United States)

    Friez, Michael J; Brooks, Susan Sklower; Stevenson, Roger E; Field, Michael; Basehore, Monica J; Adès, Lesley C; Sebold, Courtney; McGee, Stephen; Saxon, Samantha; Skinner, Cindy; Craig, Maria E; Murray, Lucy; Simensen, Richard J; Yap, Ying Yzu; Shaw, Marie A; Gardner, Alison; Corbett, Mark; Kumar, Raman; Bosshard, Matthias; van Loon, Barbara; Tarpey, Patrick S; Abidi, Fatima; Gecz, Jozef; Schwartz, Charles E

    2016-01-01

    Background X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. Methods 2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exome sequencing of genes on the X chromosome using the Agilent SureSelect Human X Chromosome Kit. The second approach was to conduct targeted NGS sequencing of 90 known XLID genes. Results We identified the same mutation, a c.12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome. Although the original families with these disorders were considered separate entities, they indeed overlap clinically. A third family was also found to have a novel HUWE1 mutation. Conclusions As we identified a HUWE1 mutation in an affected male from the original family reported by Juberg and Marsidi, it is evident the syndrome does not result from a mutation in ATRX as reported in the literature. Additionally, our data indicate that JMS and Brooks syndromes are allelic having the same HUWE1 mutation. PMID:27130160

  16. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

    Science.gov (United States)

    White, Janson J; Mazzeu, Juliana F; Hoischen, Alexander; Bayram, Yavuz; Withers, Marjorie; Gezdirici, Alper; Kimonis, Virginia; Steehouwer, Marloes; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; van Bon, Bregje W M; Sutton, V Reid; Lupski, James R; Brunner, Han G; Carvalho, Claudia M B

    2016-03-01

    Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations. PMID:26924530

  17. The clinical aspects of the acute facet syndrome: results from a structured discussion among European chiropractors

    Directory of Open Access Journals (Sweden)

    Jensen Tue

    2009-02-01

    Full Text Available Abstract Background The term 'acute facet syndrome' is widely used and accepted amongst chiropractors, but poorly described in the literature, as most of the present literature relates to chronic facet joint pain. Therefore, research into the degree of consensus on the subject amongst a large group of chiropractic practitioners was seen to be a useful contribution. Methods During the annual congress of The European Chiropractors Union (ECU in 2008, the authors conducted a workshop involving volunteer chiropractors. Topics were decided upon in advance, and the participants were asked to form into groups of four or five. The groups were asked to reach consensus on several topics relating to a basic case of a forty-year old man, where an assumption was made that his pain originated from the facet joints. First, the participants were asked to agree on a maximum of three keywords on each of four topics relating to the presentation of pain: 1. location, 2. severity, 3. aggravating factors, and 4. relieving factors. Second, the groups were asked to agree on three orthopaedic and three chiropractic tests that would aid in diagnosing pain from the facet joints. Finally, they were asked to agree on the number, frequency and duration of chiropractic treatment. Results Thirty-four chiropractors from nine European countries participated. They described the characteristics of an acute, uncomplicated facet syndrome as follows: local, ipsilateral pain, occasionally extending into the thigh with pain and decreased range of motion in extension and rotation both standing and sitting. They thought that the pain could be relieved by walking, lying with knees bent, using ice packs and taking non-steroidal anti-inflammatory drugs, and aggravated by prolonged standing or resting. They also stated that there would be no signs of neurologic involvement or antalgic posture and no aggravation of pain from sitting, flexion or coughing/sneezing. Conclusion The chiropractors

  18. Quinine improves the results of intensive chemotherapy in myelodysplastic syndromes expressing P glycoprotein: results of a randomized study.

    Science.gov (United States)

    Wattel, E; Solary, E; Hecquet, B; Caillot, D; Ifrah, N; Brion, A; Mahé, B; Milpied, N; Janvier, M; Guerci, A; Rochant, H; Cordonnier, C; Dreyfus, F; Buzyn, A; Hoang-Ngoc, L; Stoppa, A M; Gratecos, N; Sadoun, A; Stamatoulas, A; Tilly, H; Brice, P; Maloisel, F; Lioure, B; Desablens, B; Fenaux, P

    1998-09-01

    Intensive chemotherapy produces a lower complete remission (CR) rate in the myelodysplastic syndromes (MDS) than in de novo acute myeloid leukaemia (AML), possibly due in part to a higher incidence of P glycoprotein (PGP) expression in MDS blast cells. We designed a randomized trial of intensive chemotherapy with or without quinine, an agent capable of reverting the multidrug resistance (mdr) phenotype, in patients aged < or = 65 years with high-risk MDS. Patients were randomized to receive mitoxantrone 12 mg/m2/d days 2-5 + AraC 1 g/m2/12 h days 1-5, with (Q+) or without (Q-) quinine (30 mg/kg/d). 131 patients were included. PGP expression analysis was successful in 91 patients. In the 42 PGP-positive cases, 13/25 (52%) patients in the Q+ group achieved CR, compared to 3/17 (18%) patients in the Q- group (P = 0.02) and median Kaplan-Meier survival was 13 months in the Q+ group, and 8 months in the Q- group (P = 0.01). No life-threatening toxicity was observed with quinine. In conclusion, the results of this randomized study show that quinine increases the CR rate and survival in PGP-positive MDS cases treated with intensive chemotherapy. PMID:9734653

  19. Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment

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    Tesiorowski Maciej

    2010-11-01

    Full Text Available Abstract Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. Methods This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries were noted. Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. Results The mean follow up period was 5.5 ± 2.9 years (range 1-10 years. The mean preoperative thoracic and lumbar curve were 109.5 ± 19.9° (range 83° - 142° and 75.6 ± 26.7° (range 40° - 108° respectively. Posterior spine fusion alone was performed on 6 patients and combined anterior and posterior fusion (one- or two stage on 5 cases. Posterior segmental spinal instrumentation was applied with use of hooks, screws and wires. The mean postoperative thoracic and lumbar curve improved to 79.3 ± 16.1° (range 56° - 105° and 58.5 ± 27.7° (range 10° - 95° respectively, with a slight loss of correction during follow up. The average thoracic and lumbar correction was 26.4 ± 14.9% (range 5.3 - 50.4% and 26.3 ± 21.2% (range 7.9 - 75%. Postoperatively, the mean kyphosis was 79.5 ± 40.3° (range 21° -170°, and lordosis was 50.8 ± 18.6° (range 20° -79°. Hyperkyphosis increased during follow up while lordosis remained stable. Mean Th12-L2 angle was -3.5 ±9.9° (range -19° - 15° postoperatively and did not change significantly during follow up. Conclusions Huge spinal deformities in patients with Ehlers-Danlos syndrome require complex and extensive surgery. There is a big risk of sagittal imbalance in this group.

  20. Outcome in Adult Life for People with Williams Syndrome Results from a Survey of 239 Families

    Science.gov (United States)

    Howlin, P.; Udwin, O.

    2006-01-01

    BACKGROUND: Although there has been considerable research into the genotype and phenotype of Williams syndrome, there have been relatively few studies of long-term prognosis. As a preliminary to a more detailed investigation of adults with Williams syndrome, a parental questionnaire was distributed to members of the UK Williams Syndrome…

  1. Stagnant loop syndrome resulting from small-bowel irradiation injury and intestinal by-pass

    International Nuclear Information System (INIS)

    Stagnant or blind-loop syndrome includes vitamin B12 malabsorption, steatorrhea, and bacterial overgrowth of the small intestine. A case is presented to demonstrate this syndrome occurring after small-bowel irradiation injury with exaggeration postenterocolic by-pass. Alteration of normal small-bowel flora is basic to development of the stagnant-loop syndrome. Certain strains of bacteria as Bacteriodes and E. coli are capable of producing a malabsorption state. Definitive therapy for this syndrome developing after severe irradiation injury and intestinal by-pass includes antibiotics. Rapid symptomatic relief from diarrhea and improved malabsorption studies usually follow appropriate antibiotic therapy. Recolonization of the loop(s) with the offending bacterial species may produce exacerbation of symptoms. Since antibiotics are effective, recognition of this syndrome is important. Foul diarrheal stools should not be considered a necessary consequence of irradiation injury and intestinal by-pass

  2. Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

    Directory of Open Access Journals (Sweden)

    Fabio C. Vicentini

    2006-12-01

    Full Text Available OBJECTIVE: Klippel-Trenaunay-Weber syndrome (KTWS is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. MATERIALS AND METHODS: From 1995 to 2005, 7 patients with KTWS were evaluated and the charts of these patients were reviewed. RESULTS: Patients’ median age was 19-years (range 4 to 46-years and only 1 was female. The clinical presentation included genital deformities in 3 cases, hematuria in 2 and urethrorragia in 2, one of which associated with cryptorchidism and phimosis. Three patients had an association of pelvic and genital malformations, including 2 patients with hematuria due to vesical lesions and 1 patient with left ureterohydronephrosis due to a pelvic mass. Two patients had urethral lesions. Treatment included endoscopic laser coagulation for 1 patient with recurrent hematuria and 1 patient with urethrorrhagia, pelvic radiotherapy for 1 patient with hematuria and circumcision in 2 patients with genital deformities. One patient required placement of a double-J catheter to relieve obstruction. Hematuria and urethrorragia were safely and effectively controlled with laser applications. Circumcision was also effective. The patient treated with radiotherapy developed a contracted bladder and required a continent urinary diversion. CONCLUSIONS: Urogenital involvement in patients with KTWS is not rare and must be suspected in the presence of hematuria or significant cutaneous deformity of the external genitalia. Surgical treatment may be warranted in selected cases.

  3. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.

    Science.gov (United States)

    Glassford, Megan R; Rosenfeld, Jill A; Freedman, Alexa A; Zwick, Michael E; Mulle, Jennifer G

    2016-04-01

    3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet-based survey instruments. We report here on data collected during the first 18 months of registry operation, from 44 patients. This is the largest cohort of 3q29 deletion carriers ever assembled and surveyed in a systematic way. Our data reveal that 28% of registry participants report neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. Other novel findings include a high prevalence (64%) of feeding problems in infancy and reduced weight at birth for 3q29 deletion carriers (average reduction 13.9 oz (394 g), adjusted for gestational age and sex, P = 6.5e-07). We further report on the frequency of heart defects, autism, recurrent ear infections, gastrointestinal phenotypes, and dental phenotypes, among others. We also report on the expected timing of delayed developmental milestones. This is the most comprehensive description of the 3q29 deletion phenotype to date. These results are clinically actionable toward improving patient care for 3q29 deletion carriers, and can guide the expectations of physicians and parents. These data also demonstrate the value of patient-reported outcomes to reveal the full phenotypic spectrum of rare genomic disorders. © 2016 Wiley Periodicals, Inc. PMID:26738761

  4. Clinical syndrome in HIV/AIDS resulting in hospitalization based on the CD4 count

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    Mahmood Mahmood

    2009-01-01

    Full Text Available (Received 3 November, 2009 ; Accepted 10 March, 2010AbstractBackground and purpose: The CD4 lymphocyte count is the strongest index indicating the severity of immunodeficiency, prediction of incidence, diagnosis, and making a decision to start anti retroviral treatment and follow up of therapeutic response. This study was conducted to establish the clinical syndrome resulting in admission of patients with HIV infection based on the CD4 count.Materials and methods: This cross-sectional descriptive study was performed on 71 HIV patients admitted at least for onece to Imam Khomeini Hospital, Tehran during 2008 and 2009. HIV infection was confirmed by positive ELISA and Western blot. The obtained data were analyzed using SPSS software, version 16.Results: From a total of 71 patients, 8.5% were female and 91.5% were male. The mean age of the subjects was 35 ± 8.1 years. 74.6% were addicted and 38% had a prison history. The average CD4 count was 202.9 ± 20.09 /ML. 21.1% of the patients received anti-retroviral medication. 49.3% of HIV patients had hepatitis C and 18.6% had hepatitis B simultaneously. Patient with PCP, toxoplasma and TB had the least CD4 count, with an average of 75.85, 94.66 and 143.95 /ML respectively. Patients with empyema, esophagititis and abscess of femur had the highest CD4 average count of 698, 536 and 349.5 ML, respectively. There was a significant correlation between pneumonia and CD4<200/ML (P=0.001 and also, between prison history and TB (P<0.001, and between TB and CD4<200/ML (P=0.012.Conclusion: The prevalence of Pneumocystic pneumonia, Toxoplasmosis and TB syndrome may be higher in patients with CD4<200/ML and the incidence of pulmonary TB were greater in patients eith prison history. Key words: HIV, AIDS, CD4 lymphocyte count, pneumonia, tuberclosisJ Mazand Univ Med Sci 2009; 19(74: 70-77 (Persian.

  5. Endovascular Treatment of Malignant Superior Vena Cava Syndrome: Results and Predictive Factors of Clinical Efficacy

    Energy Technology Data Exchange (ETDEWEB)

    Fagedet, Dorothee, E-mail: DFagedet@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de medecine interne, Pole Pluridisciplinaire de Medecine (France); Thony, Frederic, E-mail: FThony@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Timsit, Jean-Francois, E-mail: JFTimsit@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de reanimation, Pole Medecine Aiguee Communautaire (France); Rodiere, Mathieu, E-mail: MRodiere@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Monnin-Bares, Valerie, E-mail: v-monnin@chu-montpellier.fr [CHRU Arnaud de Villeneuve, Imagerie Medicale Thoracique Cardiovasculaire (France); Ferretti, Gilbert R., E-mail: GFerretti@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Vesin, Aurelien; Moro-Sibilot, Denis, E-mail: DMoro.pneumo@chu-grenoble.fr [University Grenoble 1 e Albert Bonniot Institute, Inserm U823 (France)

    2013-02-15

    To demonstrate the effectiveness of endovascular treatment (EVT) with self-expandable bare stents for malignant superior vena cava syndrome (SVCS) and to analyze predictive factors of EVT efficacy. Retrospective review of the 164 patients with malignant SVCS treated with EVT in our hospital from August 1992 to December 2007 and followed until February 2009. Endovascular treatment includes angioplasty before and after stent placement. We used self-expandable bare stents. We studied results of this treatment and looked for predictive factors of clinical efficacy, recurrence, and complications by statistical analysis. Endovascular treatment was clinically successful in 95% of cases, with an acceptable rate of early mortality (2.4%). Thrombosis of the superior vena cava was the only independent factor for EVT failure. The use of stents over 16 mm in diameter was a predictive factor for complications (P = 0.008). Twenty-one complications (12.8%) occurred during the follow-up period. Relapse occurred in 36 patients (21.9%), with effective restenting in 75% of cases. Recurrence of SVCS was significantly increased in cases of occlusion (P = 0.01), initial associated thrombosis (P = 0.006), or use of steel stents (P = 0.004). Long-term anticoagulant therapy did not influence the risk of recurrence or complications. In malignancy, EVT with self-expandable bare stents is an effective SVCS therapy. These results prompt us to propose treatment with stents earlier in the clinical course of patients with SVCS and to avoid dilatation greater than 16 mm.

  6. The interrelation between premenstrual syndrome and major depression: Results from a population-based sample

    OpenAIRE

    Weiss Carine; Zemp Stutz Elisabeth; Forrester-Knauss Christine; Tschudin Sibil

    2011-01-01

    Abstract Background Research about the relationship between premenstrual syndrome (PMS) and major depression is limited. This study examined the relationship between moderate to severe PMS and major depression in a population-based sample of women of reproductive age. The objectives of the study were to assess the association between premenstrual syndrome and major depression, to analyse how PMS and major depression differ and to characterise the group of women who report both PMS and major d...

  7. Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

    OpenAIRE

    Fabio C. Vicentini; Francisco T. Denes; Cristiano M. Gomes; Alexandre Danilovic; Frederico A. Silva; Miguel Srougi

    2006-01-01

    OBJECTIVE: Klippel-Trenaunay-Weber syndrome (KTWS) is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. MATERIALS AND METHODS: From 1995 to 2005, 7 patients with KTWS were evaluated and the charts of these patients were re...

  8. Benign painful elbow syndrome. First results of a single center prospective randomized radiotherapy dose optimization trial

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen (Germany). Dept. of Radiation Oncology

    2012-10-15

    Background and purpose: The goal of the present study was to evaluate the efficacy of two different dose-fractionation schedules for radiotherapy (RT) of patients with painful elbow syndrome. Patients and methods: Between February 2006 and February 2010, 199 consecutive evaluable patients were recruited for this prospective randomized trial. All patients received RT in orthovoltage technique. One RT course consisted of 6 single fractions/3 weeks. In case of insufficient remission of pain after 6 weeks a second radiation series was performed. Patients were randomly assigned to receive either single doses of 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before, right after, and 6 weeks after RT by a visual analogue scale (VAS) and a comprehensive pain score (CPS). Results: The overall response rate for all patients was 80% direct after and 91% 6 weeks after RT. The mean VAS values before, after and 6 weeks after treatment for the 0.5 and 1.0 Gy groups were 59.6 {+-} 20.2 and 55.7 {+-} 18.0 (p = 0.463), 32.1 {+-} 24.5 and 34.4 {+-} 22.5 (p = 0.256), and 27.0 {+-} 27.7 and 23.5 {+-} 21.6 (p = 0.818). The mean CPS before, after, and 6 weeks after treatment was 8.7 {+-} 2.9 and 8.1 {+-} 3.1 (p = 0.207), 4.5 {+-} 3.2 and 5.0 {+-} 3.4 (p = 0.507), 3.9 {+-} 3.6 and 2.8 {+-} 2.8 (p = 0.186), respectively. No statistically significant differences between the two single dose trial arms for early (p = 0.103) and delayed response (p = 0.246) were found. Conclusion: RT is an effective treatment option for the management of benign painful elbow syndrome. For radiation protection reasons the dose for a RT series is recommended not to exceed 3.0 Gy. (orig.)

  9. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

    Science.gov (United States)

    Berry-Kravis, Elizabeth; Des Portes, Vincent; Hagerman, Randi; Jacquemont, Sébastien; Charles, Perrine; Visootsak, Jeannie; Brinkman, Marc; Rerat, Karin; Koumaras, Barbara; Zhu, Liansheng; Barth, Gottfried Maria; Jaecklin, Thomas; Apostol, George; von Raison, Florian

    2016-01-13

    Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked FMR1 gene. Work in animal models has described altered synaptic plasticity, a result of the up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling, as a putative downstream effect. Post hoc analysis of a randomized, placebo-controlled, crossover phase 2 trial suggested that the selective mGluR5 antagonist mavoglurant improved behavioral symptoms in FXS patients with completely methylated FMR1 genes. We present the results of two phase 2b, multicenter, randomized, double-blind, placebo-controlled, parallel-group studies of mavoglurant in FXS, designed to confirm this result in adults (n = 175, aged 18 to 45 years) and adolescents (n = 139, aged 12 to 17 years). In both trials, participants were stratified by methylation status and randomized to receive mavoglurant (25, 50, or 100 mg twice daily) or placebo over 12 weeks. Neither of the studies achieved the primary efficacy end point of improvement on behavioral symptoms measured by the Aberrant Behavior Checklist-Community Edition using the FXS-specific algorithm (ABC-C(FX)) after 12 weeks of treatment with mavoglurant. The safety and tolerability profile of mavoglurant was as previously described, with few adverse events. Therefore, under the conditions of our study, we could not confirm the mGluR theory of FXS nor the ability of the methylation state of the FMR1 promoter to predict mavoglurant efficacy. Preclinical results suggest that future clinical trials might profitably explore initiating treatment in a younger population with longer treatment duration and longer placebo run-ins and identifying new markers to better assess behavioral and cognitive benefits. PMID:26764156

  10. [A case of HELLP syndrome resulting in eclampsia with non-aneurysmal subarachnoid hemorrhage].

    Science.gov (United States)

    Yoshikane, Tsutomu; Miyazaki, Takeshi; Aoki, Showa; Kambara, Mizuki; Hagiwara, Shinya; Miyazaki, Kohji; Akiyama, Yasuhiko

    2013-02-01

    It is known that hemorrhagic stroke at the perinatal period are caused by specifics conditions like eclampsia as well as by the existing abnormal vessels. We treated a case of HELLP syndrome resulting in eclampsia with non-aneurysmal, convexity subarachnoid hemorrhage. A 34-year-old female, who had been pointed out to have a high level of urinal protein at the 37th week, was seen in the emergency department because of severe headache, vomiting and respiratory discomfort. Her systolic blood pressure was over 190mmHg, and caesarean section was selected. On the way to the operating room, she had a generalized convulsion with loss of consciousness. The delivery was carried out. The CT immediately after the caesarean section revealed faint and localized subarachnoid hemorrhage in the bilateral convexity areas. Additionally, the FLAIR image of MRI demonstrated increased intensity in the bilateral cerebellar hemispheres, basal ganglion and subcortical area, suggesting vasogenic edema. The patient had a good clinical course and the abnormal signal of MRI also recovered by treatment with oral iron and zinc. Here, we report a speculation for the mechanism of this case and precautions against stroke in the perinatal period. PMID:23378389

  11. Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

    OpenAIRE

    Ko, Jung Min; Kim, Jun Bum; Pai, Ki Soo; Yun, Jun-No; Park, Sang-Jin

    2010-01-01

    The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy wi...

  12. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

    Science.gov (United States)

    Seri, M; Cusano, R; Gangarossa, S; Caridi, G; Bordo, D; Lo Nigro, C; Ghiggeri, G M; Ravazzolo, R; Savino, M; Del Vecchio, M; d'Apolito, M; Iolascon, A; Zelante, L L; Savoia, A; Balduini, C L; Noris, P; Magrini, U; Belletti, S; Heath, K E; Babcock, M; Glucksman, M J; Aliprandis, E; Bizzaro, N; Desnick, R J; Martignetti, J A

    2000-09-01

    The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions ('Döhle-like' bodies). MHA and SBS can be differentiated by subtle ultrastructural leukocyte inclusion features, whereas FTNS is distinguished by the additional Alport-like clinical features of sensorineural deafness, cataracts and nephritis. The similarities between these platelet disorders and our recent refinement of the MHA (ref. 6) and FTNS (ref. 7) disease loci to an overlapping region of 480 kb on chromosome 22 suggested that all three disorders are allelic. Among the identified candidate genes is the gene encoding nonmuscle myosin heavy chain 9 (MYH9; refs 8-10), which is expressed in platelets and upregulated during granulocyte differentiation. We identified six MYH9 mutations (one nonsense and five missense) in seven unrelated probands from MHA, SBS and FTNS families. On the basis of molecular modelling, the two mutations affecting the myosin head were predicted to impose electrostatic and conformational changes, whereas the truncating mutation deleted the unique carboxy-terminal tailpiece. The remaining missense mutations, all affecting highly conserved coiled-coil domain positions, imparted destabilizing electrostatic and polar changes. Thus, our results suggest that mutations in MYH9 result in three megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts and nephritis. PMID:10973259

  13. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

    OpenAIRE

    Glassford, Megan R.; Jill A. Rosenfeld; Freedman, Alexa A.; Michael E Zwick; ,; Mulle, Jennifer G.

    2016-01-01

    3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet‐based survey instruments. We report here on data collected during...

  14. [Clinical aspects of obsessive-compulsive syndromes: results of phase 2 of a large French survey].

    Science.gov (United States)

    Hantouche, E G; Bourgeois, M; Bouhassira, M; Lancrenon, S

    1996-01-01

    Obsessive-Compulsive Disorder (OCD) had received a new interest from fundamental research (psychopharmacology, neurobiology and brain imagery...). Although more investigation of OCD clinical aspects are needed, especially in large cohorts of patients, not seen nor investigated only in high specialized psychiatric units. A large french survey "Screening-Understanding-Treating OCD" was conducted in 1994 with the participation of 240 psychiatrists. The survey had included 4,363 new consecutive patients consulting in out-patient psychiatry. The phase 1 had shown a point prevalence rates of 9.2% for OCD (full criteria of DSM III-R) and 17% for OCS (Obsessive-Compulsive Syndromes). From 731 patients, the phrase 2 was conducted on a cohort of 646 patients with OCD or OCS and had explored in details in the clinical aspects of the OC illness (typology, symptomatic categories, comorbidity, OCD spectrum, psychiatric family history and treatment history...). The results of the french survey phase 2 had confirmed a variety of classical and current literature data, especially: the ICD 10 proposal for diagnostic sub-typology according to symptomatic predominance (obsessions, compulsions or both); the symptomatic clustering of obsessions and compulsions into three major categories, suggested by a recent study from the Boston University; the high rate of comorbidity with anxiety and depressive disorders and with disorders related to the large OCD spectrum (somatoform disorders, eating disorders, impulse-control disorders, compulsive buying...); the impact of clinical parameters (as slowness, avoidance, lack of insight) on clinical global OCD and OCS severity; the high rate of intrafamilial psychiatric morbidity (OCD, depression, anxiety disorders). PMID:9035981

  15. Fiber consumption and metabolic syndrome in adults: Results from NHANES 1999-2004

    Science.gov (United States)

    The objective of this study was to examine the effect ofincreasing fiber and whole grain (WG) consumption on the odds of having metabolic syndrome (MetS) in a recent, nationally representative sample of US adults 19 to 51 years (n=7,039) and 51+ years (n=6,237) using a secondary analysis of NHANES 1...

  16. [Primary results of the reflexotherapy in the syndrome of irritable colon. Preliminary note5].

    Science.gov (United States)

    Di Cicco, M; Magnani, G; Roccia, L

    1976-06-01

    After stressing the uncertainties of classifying the syndrome exactly and the part played by psychosomatism in its aetiopathogenesis, some forms of acupuncture have been attempted as alternatives to psychodrugs and antispastic substances. 50 cases are examined in which diagnosis of irritable colon was confirmed by thorough clinical and laboratory examinations, use is also being made of appropriate computerizable tables. PMID:934538

  17. Mood and Anxiety Disorders in Chronic Fatigue Syndrome, Fibromyalgia, and Irritable Bowel Syndrome : Results From the LifeLines Cohort Study

    NARCIS (Netherlands)

    Janssens, Karin A. M.; Zijlema, Wilma L.; Joustra, Monica L.; Rosmalen, Judith G. M.

    2015-01-01

    Objective: Functional somatic syndromes (FSSs) have often been linked to psychopathology. The aim of the current study was to compare prevalence rates of psychiatric disorders among individuals with chronic fatigue syndrome (CFS), fibromyalgia (FM), and irritable bowel syndrome (IBS). Methods: This

  18. Results of magnetic resonance imaging of the vertebral column in patients with myelodysplastic syndrome

    International Nuclear Information System (INIS)

    We conducted of the study in a group of ten patients with diagnosed myelodysplastic syndrome obtained from the department of internal medicine. The progression of the disease was estimated on the basis of trephine biopsy. Considering the pathophysiology of the disease, we decided that there were indications to perform MRI examination of the spine (the patients met the included criteria). The pilot study provided evidence that this imaging technique detects decreases of the bone marrow signal in T1-weighted sequences and significantly increased attenuation value in contrast enhanced T1-weighted ones in comparison with the control group. The authors conclude that MRI of the spine should be treated as a valuable tool in of diagnosis of myelodysplastic syndrome

  19. Differentiated results of defecography with a special view on the SRU syndrome

    International Nuclear Information System (INIS)

    Eight hundred defecograms using a specially designed seat attached to the fluoroscopic table showed rectal intussusception in 78.3%, rectocele in 53.0%, enterocele in 19.7%, spastic pelvic floor in 15.1%, and normal findings in 2.1%. Pneumocolon in conjunction with defecograms showed whether enteroceles contained colon or small intestine. Because of the high incidence of enteroceles in descending pelvic floor syndrome, defecography is essential prior to pelvic surgery. In 20 patients, solitary rectal ulcer syndrome was diagnosed by means of same-day defecography, pneumocolon, and biopsy. Eighty percent showed intussusception. In two cases, the defeco gram traced the gastrointestinal (GI) bleeding to a rectal ulcer, indicating its usefulness in diagnostic workup for GI bleeding

  20. Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

    OpenAIRE

    Dündar, Munis; Müller, Thomas; Zhang, Qi; Pan, Jing; Steinmann, Beat; Vodopiutz, Julia; Gruber, Robert; Sonoda, Tohru; Krabichler, Birgit; Utermann, Gerd; Baenziger, Jacques U.; Zhang, Lijuan; Janecke, Andreas R.

    2009-01-01

    Adducted thumb-clubfoot syndrome is an autosomal-recessive disorder characterized by typical facial appearance, wasted build, thin and translucent skin, congenital contractures of thumbs and feet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects. We elucidated the molecular basis of the disease by using a SNP array-based genome-wide linkage approach that identified distinct homozygous nonsense and missense mutations in CHST14 in each of fou...

  1. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

    OpenAIRE

    Beales, P; Elcioglu, N; Woolf, A; Parker, D.; Flinter, F

    1999-01-01

    Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest population surveyed to date. The average age at diagnosis was 9 years, which is late for such a debili...

  2. A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

    Institute of Scientific and Technical Information of China (English)

    Fabrice Airaud; Sébastien Küry; Isabelle Valo; Ingrid Maury; Dominique Bonneau; Olivier Ingster; Stéphane Bezieau

    2012-01-01

    We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers:a sigmoid colon cancer at the age of 39 years,and a right colon cancer at the age of 50 years.The mutation identified in his blood and buccal cells,c.1771delG,p.Asp591Ilefs*25,appears to be a de novo event,as it was not transmitted by either of his parents.This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far.Furthermore,the discordant results observed between replication error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome.

  3. Sonography-guided gastrografin enema for meconium plug syndrome in premature newborns: preliminary results

    International Nuclear Information System (INIS)

    To evaluate the usefulness of sonography-guided Gastrografin enema for the diagnosis and treatment of meconium plug syndrome in premature newborns in a neonatal intensive care unit (NICU). Fifteen premature newborns underwent 23 sonography-guided Gastrografin enemas on the 8th day of life on average (range: 3 days-21 days). The gestational age and birth weight (mean±standard deviation) of the patients were 29±2 weeks and 999±148 g, respectively. The diagnosis of meconium plug syndrome was based on relevant clinical and radiological findings. Diluted Gastrografin (1:3, 17-45 ml) was administered through a rectal tube under the guidance of sonography until it reached to the cecum. Thereafter, immediate post-procedure and delayed portable abdominal radiographs were taken. All the procedures were done within the NICU. We reviewed the dates of meconium evacuation and the first feeding after the last enema from the clinical data. Radiologically, the timing of the radiographic improvement after the last enema was checked. In cases of distended distal ileum with meconium on preenema sonography, follow-up sonography was performed to determine the interval change after gastrografin enema. None of the sonography-guided Gastrografin enemas performed within the NICU caused procedure-related complications. Meconium was evacuated within one day in all patients. In 14 patients, on average, feeding was started on the 7th day and radiographic improvement was observed on the 3rd day. Four of the five patients showing a distended distal ileum with meconium revealed a decrease in ileal distension on follow-up sonography. On the other hand, the other patient, who did not show such a decrease on follow-up sonography, was found to have ileal stenosis during subsequent surgery. Sonography-guided Gastrografin enema is a safe and effective bedside procedure, when performed in the NICU for the diagnosis and treatment of meconium plug syndrome

  4. Sonography-guided gastrografin enema for meconium plug syndrome in premature newborns: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo; Kim, Ki Soo; Kim, Rhan Ellen Ai; Pi, Soo Young; Yoon, Chong Hyun [Asan Medical Center, Seoul (Korea, Republic of)

    2004-04-01

    To evaluate the usefulness of sonography-guided Gastrografin enema for the diagnosis and treatment of meconium plug syndrome in premature newborns in a neonatal intensive care unit (NICU). Fifteen premature newborns underwent 23 sonography-guided Gastrografin enemas on the 8th day of life on average (range: 3 days-21 days). The gestational age and birth weight (mean{+-}standard deviation) of the patients were 29{+-}2 weeks and 999{+-}148 g, respectively. The diagnosis of meconium plug syndrome was based on relevant clinical and radiological findings. Diluted Gastrografin (1:3, 17-45 ml) was administered through a rectal tube under the guidance of sonography until it reached to the cecum. Thereafter, immediate post-procedure and delayed portable abdominal radiographs were taken. All the procedures were done within the NICU. We reviewed the dates of meconium evacuation and the first feeding after the last enema from the clinical data. Radiologically, the timing of the radiographic improvement after the last enema was checked. In cases of distended distal ileum with meconium on preenema sonography, follow-up sonography was performed to determine the interval change after gastrografin enema. None of the sonography-guided Gastrografin enemas performed within the NICU caused procedure-related complications. Meconium was evacuated within one day in all patients. In 14 patients, on average, feeding was started on the 7th day and radiographic improvement was observed on the 3rd day. Four of the five patients showing a distended distal ileum with meconium revealed a decrease in ileal distension on follow-up sonography. On the other hand, the other patient, who did not show such a decrease on follow-up sonography, was found to have ileal stenosis during subsequent surgery. Sonography-guided Gastrografin enema is a safe and effective bedside procedure, when performed in the NICU for the diagnosis and treatment of meconium plug syndrome.

  5. Spontaneous Pelvic Rupture as a Result of Renal Colic in a Patient with Klinefelter Syndrome

    OpenAIRE

    Sergey Reva; Yuri Tolkach

    2013-01-01

    We present the case of a young man with Klinefelter syndrome, who was admitted to our clinic with renal colic. Shortly after admittance, spontaneous decrease in pain has occurred. Ultrasound and intravenous contrast computed tomography were performed, which showed the evidence of urine extravasation at the level of left renal pelvis and a 4 mm stone in the lower third of the left ureter. The management with a double-J ureteric stent for three weeks was successful. Then, the stent was removed ...

  6. Repair of complete atrioventricular septal defect in infants with down syndrome: outcomes and long-term results.

    Science.gov (United States)

    Tumanyan, Margarita R; Filaretova, Olga V; Chechneva, Vera V; Gulasaryan, Ruben S; Butrim, Iuliia V; Bockeria, Leo A

    2015-01-01

    In clinical practice, the combination of congenital heart disease (CHD) with malformations of other organs occurs in about 10 % of cases, including chromosomal disease with heart defects, which are observed mainly with certain syndromes. In the Bakoulev SCCS (Moscow, Russian Federation), from 01.2005 to 01.2011, complete atrioventricular septal defect (CAVSD) repair was performed on 163 patients (5.6 ± 3.0 months) with Down Syndrome (DS) using the single-patch (n = 40) and the two-patch (n = 123) methods. The control group consisted of 214 infants aged 6.49 ± 3.03 months with CAVSD and normal karyotype. A retrospective cohort study was made, as well as a comparative analysis of the immediate (up to 30 days) and long-term (12-75 months, at the average of 56 ± 15) results of the repair of CAVSD in infants with DSand normal karyotype/chromosome set (NK). During the hospital treatment period, we registered the following complications: pulmonary hypertensive crises in 6 % (n = 9) of patients with DS and in 10 % (n = 21) of infants with NK, infectious complications in 21% (n = 34) of patients with DS and in 8% (n = 17) of infants with NK. Squeal structures in groups were differentiated. The doses and duration of cardiotonic support in the NK patients were significantly higher in comparison with the DS patients (7.5 ± 2.1 days vs 3.4 ± 1.15 days, p Down syndrome. Concerning the long-term results, there was no significant difference (Gehan-Wilcoxon test) in actuarial freedom from reoperation after repair of CAVSD between DS and NK groups (p Down Syndrome in patients significantly increases the risk of severe co-morbidities that have a significant impact on the recovery period, as well as on life expectancy even after successful CHD correction. PMID:25099029

  7. Pseudoaminopterin syndrome.

    Science.gov (United States)

    Kraoua, Lilia; Capri, Yline; Perrin, Laurence; Benmansour, Abdelmajjid; Verloes, Alain

    2012-09-01

    Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. PMID:22811276

  8. Cushing Syndrome

    Science.gov (United States)

    ... links Share this: Page Content What is Cushing’s syndrome? Cushing’s syndrome is a condition that occurs when the body’s ... medication or as a result of a tumor, Cushing’s syndrome can develop. Many factors influence whether this happens, ...

  9. A rare balanced parental t (21q; 21q Robertsonian translocation that results in Down syndrome in all viable pregnancies

    Directory of Open Access Journals (Sweden)

    Seneesh Kumar Vikraman

    2015-04-01

    Full Text Available We report a case of a rare balanced Robertsonian translocation, t (21q; 21q in one of the parents that results in adverse pregnancy outcome in 100 % of cases, either first trimester miscarriages or Down syndrome in all viable fetuses. The case highlights the role of optimum genetic evaluation of all cases of reproductive disorders as they can have profound effect over prognosis and further management. [Int J Reprod Contracept Obstet Gynecol 2015; 4(2.000: 514-517

  10. The Erlangen Dose Optimization Trial for radiotherapy of benign painful shoulder syndrome. Long-term results

    International Nuclear Information System (INIS)

    To evaluate the long-term efficacy of pain reduction by two dose-fractionation schedules for radiotherapy of painful shoulder syndrome. Between February 2006 and February 2010, 312 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 11-57). The overall early, delayed and long-term response rates for all patients were 83, 85 and 82%, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 56.8±23.7 and 53.2±21.8 (p=0.16); 38.2±36.1 and 34.0±24.5 (p=0.19); 33.0±27.2 and 23.7±22.7 (p=0.04) and 27.9±25.8 and 32.1±26.9 (p=0.25), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 9.7±3.0 and 9.5±2.7 (p=0.31); 6.1±3.6 and 5.4±3.6 (p=0.10); 5.3±3.7 and 4.1±3.7 (p=0.05) and 4.0±3.9 and 5.3±4.4 (p=0.05), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p=0.28). Radiotherapy is an effective treatment for the management of benign painful shoulder syndrome. For radiation protection reasons, the dose for a radiotherapy series should not exceed 3.0 Gy. (orig.)

  11. The Erlangen Dose Optimization Trial for radiotherapy of benign painful shoulder syndrome. Long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen, Department of Radiation Oncology, Erlangen (Germany)

    2014-04-15

    To evaluate the long-term efficacy of pain reduction by two dose-fractionation schedules for radiotherapy of painful shoulder syndrome. Between February 2006 and February 2010, 312 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 11-57). The overall early, delayed and long-term response rates for all patients were 83, 85 and 82%, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 56.8±23.7 and 53.2±21.8 (p=0.16); 38.2±36.1 and 34.0±24.5 (p=0.19); 33.0±27.2 and 23.7±22.7 (p=0.04) and 27.9±25.8 and 32.1±26.9 (p=0.25), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 9.7±3.0 and 9.5±2.7 (p=0.31); 6.1±3.6 and 5.4±3.6 (p=0.10); 5.3±3.7 and 4.1±3.7 (p=0.05) and 4.0±3.9 and 5.3±4.4 (p=0.05), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p=0.28). Radiotherapy is an effective treatment for the management of benign painful shoulder syndrome. For radiation protection reasons, the dose for a radiotherapy series should not exceed 3.0 Gy. (orig.)

  12. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

    OpenAIRE

    Milewicz, D.M.; Duvic, M

    1994-01-01

    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. We studied an infant with severe neonatal ...

  13. Is metabolic syndrome associated to HIV infection per se? Results from the HERMES study.

    Science.gov (United States)

    Bonfanti, Paolo; De Socio, Giuseppe L V; Marconi, Patrizia; Franzetti, Marzia; Martinelli, Canio; Vichi, Francesca; Penco, Giovanni; Madeddu, Giordano; Orofino, Giancarlo; Valsecchi, Laura; Vitiello, Paola; Menzaghi, Barbara; Magni, Carlo; Ricci, Elena

    2010-03-01

    HERMES is a prospective study, including all treatment-naïve patients attending scheduled visits at hospitals in the CISAI group in 2007. The present cross-sectional analysis aims to assess the baseline prevalence and characteristics of Metabolic Syndrome (MS) in a population of HIV-positive treatment-naïve patients. MS was diagnosed using the National Cholesterol Education Program (NCEP) definitions. A total of 292 subjects were enrolled, median age was 37 years, 75% of them were males. The prevalence of MS was 12.3%. The most frequent trio of abnormalities that led to the diagnosis of MS was high blood pressure, triglycerides and HDL. Univariate analysis showed that MS was associated with the following variables: age, education, physical activity, advanced HIV disease (CDC stage C or HIV-RNA >100,000 copies + CD4 <100 cells/mm(3)). Higher educational levels remained protectively associated with MS in multivariate analysis. A higher risk of MS was also associated with advanced HIV disease. Actually, treatment-naïve HIV-positive patients in an advanced stage of the disease have a higher prevalence of abnormal levels of triglycerides, HDL cholesterol and blood glucose than those at a less advanced stage. These findings of the HERMES study suggest, therefore, that HIV infection per se is associated to MS. PMID:20163341

  14. Diffusion tensor imaging and tractography of the median nerve in carpal tunnel syndrome: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Khalil, C.; Hancart, C.; Thuc, V.Le; Cotten, A. [Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, CHRU de Lille (France); Chantelot, C. [Clinique d' Orthopedie, Hopital Roger Salengro, CHRU de Lille (France); Chechin, D. [Philips Medical Systems, Suresnes (France)

    2008-10-15

    The purpose was to demonstrate the feasibility of in vivo diffusion tensor imaging (DTI) and tractography of the human median nerve with a 1.5-T MR scanner and to assess potential differences in diffusion between healthy volunteers and patients suffering from carpal tunnel syndrome. The median nerve was examined in 13 patients and 13 healthy volunteers with MR DTI and tractography using a 1.5-T MRI scanner with a dedicated wrist coil. T1-weighted images were performed for anatomical correlation. Mean fractional anisotropy (FA) and mean apparent diffusion coefficient (ADC) values were quantified in the median nerve on tractography images. In all subjects, the nerve orientation and course could be detected with tractography. Mean FA values were significantly lower in patients (p=0.03). However, no statistically significant differences were found for mean ADC values. In vivo assessment of the median nerve in the carpal tunnel using DTI with tractography on a 1.5-T MRI scanner is possible. Microstructural parameters can be easily obtained from tractography images. A significant decrease of mean FA values was found in patients suffering from chronic compression of the median nerve. Further investigations are necessary to determine if mean FA values may be correlated with the severity of nerve entrapment. (orig.)

  15. Bronchopulmonary Carcinoids causing Cushing Syndrome: Results from a Multicentric Study Suggesting a More Aggressive Behavior.

    Science.gov (United States)

    Lococo, Filippo; Margaritora, Stefano; Cardillo, Giuseppe; Filosso, Perluigi; Novellis, Pierluigi; Rapicetta, Cristian; Carleo, Francesco; Bora, Giulia; Cesario, Alfredo; Stefani, Alessandro; Rossi, Giulio; Paci, Massimiliano

    2016-03-01

    Objective Cushing syndrome (CS) caused by bronchopulmonary carcinoids (BCs) is a very rare entity. The aim of this study was to revisit the features of a multicenter clinical series to identify significant prognostic factors. Methods From January 2002 to December 2013, the clinical and pathological data of 23 patients (treated in five different institutions) were retrospectively reviewed. Survival analysis was performed to explore the relative weight of potential prognostic factors. Results Median age and male/female ratio were 48 years and 14/9, respectively. Most (> 80%) of the patients presented with CS-related symptoms at diagnosis. Tumor location was peripheral in 13 patients (57%) and central in 10 (43%). All patients but two (treated with chemotherapy) underwent surgical resection with curative intent. Definitive cyto/histology was indicative of typical carcinoid (TC) in 16 cases (70%) and atypical carcinoid (AC) in 7 cases (30%). A complete remission of CS was obtained in 16 cases (70%). Lymph nodal involvement was detected in 11 cases (48%), with N2 disease occurring in 7 (∼ 30% of all cases). Four patients (22%) experienced a relapse of the disease after radical surgery. Overall 5-year survival (long-term survival, LTS) was 60%, better in TCs when compared with AC (LTS: 66 v s. 48%, p = 0.28). Log-rank analysis identified ECOG performance status, cTNM and cN staging, pTNM and pN staging, persistence of CS and relapses (local p = 0.006; distant p = 0.001) as significant prognostic factors in this cohort of patients. Conclusion BCs causing CS are characterized by a high rate of lymph-nodal involvement, a suboptimal prognosis (5-year survival = 60%, 66% in TCs) and a remarkable risk of relapse even after radical resection. Advanced stage, lymph-nodal involvement and the persisting of the CS after treatment correlate with a poor prognosis. PMID:26220696

  16. A case of the interval form of carbon monoxide poisoning with apallic syndrome resulted in complete recovery after treatment with oxygen at high pressure

    International Nuclear Information System (INIS)

    A 44-year-old male patient had apallic syndrome 32 days after 12-hour coma resulting from acute carbon monoxide poisoning and could return to the social life by undergoing fifty oxygen treatments at high pressure. EEG revealed no low voltage, which is usually seen in cases of apallic syndrome. Cranial CT scan revealed that low density areas in the white matter of the brain had improved with improvement of clinical symptoms. (Namekawa, K.)

  17. Cardiovascular system and physical working capacity in patients who had acute radiation syndrome as the result of Chernobyl accident

    International Nuclear Information System (INIS)

    The functional state of cardiovascular system has been studied since 1986 in 168 patients who had acute radiation syndrome as the result of Chernobyl accident. There was revealed a progressive increase of cardiovascular system pathology. The number of patients with pathological signs at ECG increased from 4.8 % in 1987 to 11.3 % in 1994 and with myocardial hypertrophy from 1.2 % to 22.6 %. The number of patients with coronary heart disease increased on 17.2% and with essential hypertension on 15.5%. The physical working capacity reduced to 50-60 % of a due level for healthy persons. Two patients suffered from acute myocardial infarction during this period of observation. Thirteenth patients died from 1987 to 1995. Among them 4 patient died in a result of acute cardiac failure. The development of cardiovascular pathology has no any correlation with a dose of exposure. Three factors of cardiovascular pathology growth are supposed

  18. Ethnic Differences in the Prevalence of Metabolic Syndrome: Results from a Multi-Ethnic Population-Based Survey in Malaysia

    OpenAIRE

    Rampal, Sanjay; Mahadeva, Sanjiv; Guallar, Eliseo; Bulgiba, Awang; Mohamed, Rosmawati; Rahmat, Ramlee; Arif, Mohamad Taha; Rampal, Lekhraj

    2012-01-01

    Introduction The prevalence of metabolic syndrome is increasing disproportionately among the different ethnicities in Asia compared to the rest of the world. This study aims to determine the differences in the prevalence of metabolic syndrome across ethnicities in Malaysia, a multi-ethnic country. Methods In 2004, we conducted a national cross-sectional population-based study using a stratified two-stage cluster sampling design (N = 17,211). Metabolic syndrome was defined according to the Int...

  19. Monoclonal antibody panels for acute leukemia and myelodysplastic syndrome diagnosis. Results of a co-operative quality control group.

    Science.gov (United States)

    Basso, G; Bernasconi, P; Chianese, R; Crovetti, G; Garbaccio, G; Iavarone, A; Pautasso, M; Santagostino, A; Stacchini, A

    2001-01-01

    The need for standardization criteria and result reproducibility in immunophenotyping hematological diseases has increased along with their clinical importance. Our group "Policentric Study Group on Immunological Markers", is composed of 40 laboratories. Its aim, over recent years, has been to find a standardized way of immunophenotypic analysis applicable to various hematological diseases. The objective of this study is to contribute to the debate concerning standardization of monoclonal antibody panels and immunophenotypic analysis procedures in acute leukemia (AL) and myelodysplastic syndrome (MDS), with the following targets: to improve interlaboratory reproducibility of the immunophenotyping data, and interpretative results; to study, with improved feasibility, correlation between immunophenotype and clinical or biological findings on a large number of AL and MDS cases; to verify the utility of the proposed monoclonal antibody panels for proper AL and MDS classification, and to detect minimal residual disease. In the field of AL and MDS our experience is based on about 1800 and 700 cases respectively analyzed over the last five years. Starting from these experiences and data of the literature we have elaborated the proposed panels of monoclonal antibodies and the methods of analysis. We have suggested a standardized immunophenotypic approach to study AL and MDS. In particular our work has focused on the gating strategy. This aims at drawing a gate of analysis having high purity and recovery, and on the choice of monoclonal antibody combinations for multiparametric analysis, particularly the normal antigen expression on each step of lineage differentiation or their clinically relevant aberrant expressions. A standardized criteria has become a necessary starting point in any kind of analytical process. In the field of acute leukemias and myelodysplastic syndromes the work of this polycentric group has focused on the pre-analytical and analytical steps to be

  20. Establishing the tolerability and performance of tamarind seed polysaccharide (TSP in treating dry eye syndrome: results of a clinical study

    Directory of Open Access Journals (Sweden)

    Valente Cristiana

    2007-03-01

    Full Text Available Abstract Background One of the problems arising from available preparations for dry eye syndrome is the limited residence time of products on the ocular surface. In this paper, we look at an innovative new treatment for dry eye, tamarind seed polysaccharide (TSP. TSP possesses mucomimetic, mucoadhesive and pseudoplastic properties. The 'mucin-like' molecular structure of TSP is similar to corneal and conjunctival mucin 1 (MUC1, a transmembrane glycoprotein thought to play an essential role in protecting and wetting the corneal surface and may explain its increased retention on the eye surface. Methods The activity of TSP and hyaluronic acid (HA in the treatment of dry eye syndrome was compared in an open-label, randomised, single-centre clinical study. Thirty patients were randomised to receive three or more applications per day of either TSP 0.5%, TSP 1% or HA 0.2% (Hyalistil™ over a period of 90 days. The primary objective of tolerability was assessed by visual analogue scale (VAS, scoring of specific symptoms and the incidence of adverse events. Secondary objectives included improvement in stability of the precorneal tear film, subjective symptoms and corneal and conjunctival staining. Results TSP 0.5% and 1% were comparable to HA 0.2% with regard to both primary and secondary objective parameters. TSP 1% showed benefits over HA 0.2% for the subjective symptoms; trouble blinking, ocular burning and foreign body sensation. Conclusion This study suggests that TSP 0.5% and 1% offer at least equivalent relief to HA 0.2% for dry eye syndrome. All treatments demonstrated optimal tolerability and are suitable for frequent use in the therapy of dry eye. TSP 1% produced promising results in terms of improvements in certain patient symptoms and suggests benefits of the TSP formulation. This study paves the way for a larger study to further establish the performance and safety of TSP compared with HA and highlights the need to expand this therapeutic

  1. Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

    OpenAIRE

    Al-Baradie, Raidah; Yamada, Koki; St. Hilaire, Cynthia; Chan, Wai-Man; Andrews, Caroline; McIntosh, Nathalie; Nakano, Motoi; Martonyi, E. Jean; Raymond, William R.; Okumura, Sada; Okihiro, Michael M.; Engle, Elizabeth C

    2002-01-01

    Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as “Okihiro syndrome” or “Duane radial ray syndrome” (DRRS). We ascertained three pedigrees with DRRS and mapped their disease gene to a 21.6-cM region of chromosome 20 flanked by markers D20S888 and D20S102. A n...

  2. Radiation Therapy for Gorham-Stout Syndrome: Results of a National Patterns-of-Care Study and Literature Review

    International Nuclear Information System (INIS)

    Purpose: The German Cooperative Group on Radiotherapy for Benign Diseases conducted a national patterns-of-care study to investigate the value of radiation therapy (RT) in the management of Gorham-Stout syndrome. Methods and Materials: In 2009 a structured questionnaire was circulated to 230 German RT institutions to assess information about the number of patients, the RT indication and technique, and the target volume definition, as well as accompanying treatments, outcome data, and early or late radiation toxicity. Results: In November 2009 responses were available from 197 departments (85.6%): 29 university hospitals (14.7%), 89 community hospitals (45.2%), and 79 private RT offices (40.1%). Of these institutions, 8 (4.0%) had experience using RT, for a total of 10 cases in various anatomic sites. Four patients underwent irradiation postoperatively, and six patients received primary RT. The total doses applied after computed tomography-based treatment planning ranged from 30 to 45 Gy. After a median follow-up period of 42 months, local disease progression was avoided in 8 cases (80.0%). In 2 of these cases a progression occurred beyond the target volume. Acute and late toxicity was mild; in 4 patients RT was associated with Grade I side effects according to Radiation Therapy Oncology Group/European Organisation for Research and Treatment of Cancer criteria. The literature analysis of 38 previously published articles providing results after the use of RT in 44 patients showed stable or regressive disease in 77.3%. Conclusions: RT may prevent disease progression effectively in Gorham-Stout syndrome in 77% to 80% of cases. Total doses ranging from 30 to 45 Gy applied after computed tomography-based treatment planning are recommended.

  3. Radiotracer transit measurements as an index of regional cerebral blood flow. Pt. 2. Results in acute alcohol withdrawal syndromes

    International Nuclear Information System (INIS)

    The data obtained in 72 male chronic alcoholics with acute alcohol withdrawal syndroms give evidence that there is a significant correlation between the numerical value of the cerebral radiorheographic index and the severity of the psychopathological syndrome (especially of the clouding of sensorium) in these patients. (author)

  4. Excellent long-term results with iliac stenting in local anesthesia for post-thrombotic syndrome

    DEFF Research Database (Denmark)

    Klitfod, Lotte; Just, Sven; Føgh, Pia; Baekgaard, Niels

    2015-01-01

    quality of life in more than 50%. Endovascular treatment for iliac vein obstruction using stents is known to alleviate PTS symptoms in selected patients. PURPOSE: To report the Danish long-term results of endovascular treatment with iliac stenting. MATERIAL AND METHODS: From 2000 to 2013 consecutive...

  5. [Sudeck syndrome of the hand. Historical review, treatment concept and results].

    Science.gov (United States)

    von Rothkirch, T; Blauth, W; Helbig, B

    1989-05-01

    The literature on the etiology, pathogenesis, and therapy of Sudeck's atrophy is reviewed. The authors present their treatment regimen for reflex dystrophic hands that has been used successfully for more than twenty years. This program consists of a combination including drugs as well as physical and occupational therapy. Patients have to be guided psychologically. In-patient treatment is preferred. The ultimate aim of therapy is to restore the functional integrity of the affected hand. The choice of therapy depends on the stage of the disease. Removing pain and edema is the most important aim in stage I. This is achieved by immobilization of the affected extremity in an upward position, cooling the hand with ice, and careful physiotherapy supported by antiphlogistic drugs. In stage II the physiotherapy has to be intensified and should be supplemented by special balneologic (bathing) measures and functional splints. The ipsilateral shoulder can be affected and has to be treated adequately. In stage III additional surgical treatment might be helpful such as arthrolysis, arthroplasty, or arthrodesis of finger joints. The authors report on their results in seventy-seven dystrophic hands in a long-term follow-up between one and fourteen years. The results depend on the begin of the treatment in the different stages of the disease. Eighty-three percent of the patients were cured in stage I, only thirty-one percent in stage II, and no patient in stage III. The authors' experience using Calcitone shows that it has no influence on the functional results. Comparing their results to those obtained by others, the authors conclude that physical and occupational therapy are decisive in dealing with dystrophic hands. PMID:2472312

  6. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

    Science.gov (United States)

    Kashiyama, Kazuya; Nakazawa, Yuka; Pilz, Daniela T; Guo, Chaowan; Shimada, Mayuko; Sasaki, Kensaku; Fawcett, Heather; Wing, Jonathan F; Lewin, Susan O; Carr, Lucinda; Li, Tao-Sheng; Yoshiura, Koh-ichiro; Utani, Atsushi; Hirano, Akiyoshi; Yamashita, Shunichi; Greenblatt, Danielle; Nardo, Tiziana; Stefanini, Miria; McGibbon, David; Sarkany, Robert; Fassihi, Hiva; Takahashi, Yoshito; Nagayama, Yuji; Mitsutake, Norisato; Lehmann, Alan R; Ogi, Tomoo

    2013-05-01

    Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders--CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. PMID:23623389

  7. Cost-effectiveness of internet-based cognitive behavior therapy for irritable bowel syndrome: results from a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Paxling Björn

    2011-04-01

    Full Text Available Abstract Background Irritable Bowel Syndrome (IBS is highly prevalent and is associated with a substantial economic burden. Cognitive behavior therapy (CBT has been shown to be effective in treating IBS. The aim of this study was to evaluate the cost-effectiveness of a new treatment alternative, internet-delivered CBT based on exposure and mindfulness exercises. Methods Participants (N = 85 with IBS were recruited through self-referral and were assessed via a telephone interview and self-report measures on the internet. Participants were randomized to internet-delivered CBT or to a discussion forum. Economic data was assessed at pre-, post- and at 3-month and 1 year follow-up. Results Significant cost reductions were found for the treatment group at $16,806 per successfully treated case. The cost reductions were mainly driven by reduced work loss in the treatment group. Results were sustained at 3-month and 1 year follow-up. Conclusions Internet-delivered CBT appears to generate health gains in IBS treatment and is associated with cost-savings from a societal perspective.

  8. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  9. Benign painful shoulder syndrome. Initial results of a single-center prospective randomized radiotherapy dose-optimization trial

    International Nuclear Information System (INIS)

    Background and purpose: To compare the efficacy of two different dose-fractionation schedules for radiotherapy of patients with benign painful shoulder syndrome. Patients and methods: Between February 2006 and February 2010, 312 consecutive evaluable patients were recruited for this prospective randomized trial. All patients received radiotherapy with an orthovoltage technique. One radiotherapy course consisted of 6 single fractions in 3 weeks. In case of insufficient remission of pain after 6 weeks, a second radiation series was performed. Patients were randomly assigned to receive either single doses of 0.5 or 1.0 Gy. The endpoint was pain reduction. Pain was measured before, right after, and 6 weeks after radiotherapy using a visual analogue scale (VAS) and a comprehensive pain score (CPS). Results: The overall response rate for all patients was 83% directly after and 85% 6 weeks after radiotherapy. The mean VAS values before, directly after, and 6 weeks after treatment for the 0.5 and 1.0 Gy groups were 56.8 ± 23.7 and 53.2 ± 21.8 (p = 0.158), 38.2 ± 26.1 and 34.0 ± 24.5 (p = 0.189), and 33.0 ± 27.2 and 23.7 ± 22.7 (p = 0.044), respectively. The mean CPS before, directly after, and 6 weeks after treatment was 9.7 ± 3.0 and 9.5 ± 2.7 (p = 0.309), 6.1 ± 3.6 and 5.4 ± 3.6 (p = 0.096), 5.3 ± 3.7 and 4.1 ± 3.7 (p = 0.052), respectively. Despite a slight advantage in the VAS analysis for the 1.0 Gy group for delayed response, the CPS analysis revealed no statistically significant differences between the two single-dose trial arms for early (p = 0.652) and delayed response quality (p = 0.380). Conclusion: Radiotherapy is an effective treatment option for the management of benign painful shoulder syndrome. Concerning radiation protection, the dose for a radiotherapy series is recommended not to exceed 3-6 Gy. (orig.)

  10. Benign painful shoulder syndrome. Initial results of a single-center prospective randomized radiotherapy dose-optimization trial

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen (Germany). Department of Radiation Oncology

    2012-12-15

    Background and purpose: To compare the efficacy of two different dose-fractionation schedules for radiotherapy of patients with benign painful shoulder syndrome. Patients and methods: Between February 2006 and February 2010, 312 consecutive evaluable patients were recruited for this prospective randomized trial. All patients received radiotherapy with an orthovoltage technique. One radiotherapy course consisted of 6 single fractions in 3 weeks. In case of insufficient remission of pain after 6 weeks, a second radiation series was performed. Patients were randomly assigned to receive either single doses of 0.5 or 1.0 Gy. The endpoint was pain reduction. Pain was measured before, right after, and 6 weeks after radiotherapy using a visual analogue scale (VAS) and a comprehensive pain score (CPS). Results: The overall response rate for all patients was 83% directly after and 85% 6 weeks after radiotherapy. The mean VAS values before, directly after, and 6 weeks after treatment for the 0.5 and 1.0 Gy groups were 56.8 {+-} 23.7 and 53.2 {+-} 21.8 (p = 0.158), 38.2 {+-} 26.1 and 34.0 {+-} 24.5 (p = 0.189), and 33.0 {+-} 27.2 and 23.7 {+-} 22.7 (p = 0.044), respectively. The mean CPS before, directly after, and 6 weeks after treatment was 9.7 {+-} 3.0 and 9.5 {+-} 2.7 (p = 0.309), 6.1 {+-} 3.6 and 5.4 {+-} 3.6 (p = 0.096), 5.3 {+-} 3.7 and 4.1 {+-} 3.7 (p = 0.052), respectively. Despite a slight advantage in the VAS analysis for the 1.0 Gy group for delayed response, the CPS analysis revealed no statistically significant differences between the two single-dose trial arms for early (p = 0.652) and delayed response quality (p = 0.380). Conclusion: Radiotherapy is an effective treatment option for the management of benign painful shoulder syndrome. Concerning radiation protection, the dose for a radiotherapy series is recommended not to exceed 3-6 Gy. (orig.)

  11. Increased proton pump inhibitor and NSAID exposure in irritable bowel syndrome: results from a case-control study

    Directory of Open Access Journals (Sweden)

    Keszthelyi Daniel

    2012-09-01

    Full Text Available Abstract Background Patients with irritable bowel syndrome (IBS seen by a gastroenterologist often utilize medications that may alter intestinal homeostasis. The question arises whether exposure to these drugs is associated with the development of IBS symptoms. Aim of this study was therefore to assess the use of PPIs and NSAIDs in patients with IBS versus controls. Methods Cases of IBS from the last 5 years were reviewed. All patients having had at least one prescription for a particular drug (PPIs, NSAIDs, SSRIs, diuretics, ACE inhibitors in the 6 months prior to the time of initial symptom onset were considered exposed. The control group consisted of individuals randomly selected from the general population. Results 287 cases of IBS were retrieved for analysis together with 287 age and sex-matched controls. Exposure to PPIs and NSAIDs was significantly higher in IBS patients, whereas no association between ACE inhibitor use and IBS was found. PPIs were not significantly associated when excluding patients with gastrointestinal reflux disease or functional dyspepsia. Exposure to SSRIs was also positively associated with IBS, but only when patients with psychiatric comorbidity were included in the analyses. Conclusions Medications that may alter intestinal homeostasis such as NSAIDs and PPIs were more frequently used in IBS patients compared to controls. This association might be relevant for everyday clinical practice, but it is remains to be elucidated whether this association is of etiological nature.

  12. Association between Depressive Symptoms and Metabolic Syndrome in Police Officers: Results from Two Cross-Sectional Studies

    International Nuclear Information System (INIS)

    Policing is one of the most dangerous and stressful occupations and such stress can have deleterious effects on health. The purpose of this study was to examine the association between depressive symptoms and metabolic syndrome (Met Syn) in male and female police officers from two study populations, Buffalo, NY and Spokane, WA. Depressive symptoms were measured using the Center for Epidemiologic Studies-Depression (CES-D) scale. Met Syn was defined using the 2005 AHA/NHBLI guidelines. Analysis of covariance was used to describe differences in number of Met Syn components across depressive symptom categories. The number of Met Syn components increased significantly across categories of CES-D for Spokane men only (p-trend = 0.003). For each 5-unit increase in CES-D score, odds increased by 47.6% for having hypertriglyceridemia, by 51.8% for having hypertension, and by 56.7% for having glucose intolerance. Exploring this association is important since both are predictors of future chronic health problems and the results could be helpful in developing future gender-specific prevention and intervention efforts among police officers

  13. Sleep characteristics of persons with chronic fatigue syndrome and non-fatigued controls: results from a population-based study

    Directory of Open Access Journals (Sweden)

    Jones James F

    2006-11-01

    Full Text Available Abstract Background The etiology and pathophysiology of chronic fatigue syndrome (CFS remain inchoate. Attempts to elucidate the pathophysiology must consider sleep physiology, as unrefreshing sleep is the most commonly reported of the 8 case-defining symptoms of CFS. Although published studies have consistently reported inefficient sleep and documented a variable occurrence of previously undiagnosed primary sleep disorders, they have not identified characteristic disturbances in sleep architecture or a distinctive pattern of polysomnographic abnormalities associated with CFS. Methods This study recruited CFS cases and non-fatigued controls from a population based study of CFS in Wichita, Kansas. Participants spent two nights in the research unit of a local hospital and underwent overnight polysomnographic and daytime multiple sleep latency testing in order to characterize sleep architecture. Results Approximately 18% of persons with CFS and 7% of asymptomatic controls were diagnosed with severe primary sleep disorders and were excluded from further analysis. These rates were not significantly different. Persons with CFS had a significantly higher mean frequency of obstructive apnea per hour (p = .003; however, the difference was not clinically meaningful. Other characteristics of sleep architecture did not differ between persons with CFS and controls. Conclusion Although disordered breathing during sleep may be associated with CFS, this study generally did not provide evidence that altered sleep architecture is a critical factor in CFS. Future studies should further scrutinize the relationship between subjective sleep quality relative to objective polysomnographic measures.

  14. Effect of Vitamin B6 on Clinical Symptoms and Electrodiagnostic Results of Patients with Carpal Tunnel Syndrome

    Directory of Open Access Journals (Sweden)

    Mahnaz Talebi

    2013-08-01

    Full Text Available Purpose: Carpal tunnel syndrome (CTS refers to a cluster of signs and symptoms that stems from compression of the median nerve traveling through carpal tunnel. Surgery is a definite treatment for CTS; however, many conservative therapies have been proposed. The present study set out to assess the effect of vitamin B6 in patients with CTS. Methods: Forty patients (67 hands with mild-moderate CTS were initially selected and randomly assigned into two groups as follows: 1 Case group with 20 subjects (32 affected hands receiving vitamin B6 (120 mg/day for 3 months and splinting. 2 Control group with 19 subjects (35 affected hands only received splinting. One subject from the control group dispensed with continuing participation in the research. Daily symptoms and electrodiagnostic (NCV-EMG results were assessed at baseline and after 3 months. Results: Nocturnal awakening frequency due to pain, daily pain, daily pain frequency, daily pain persistence, hand numbness, hand weakness, hand tingling, severity of nocturnal numbness and tingling, nocturnal awakening frequency owing to hand numbness and tingling, and clumsiness in handling objects improved significantly in the vitamin B6-treated patients; even so, only problem with opening a jam bottle and handling phone significantly reduced in the control group. The median nerve sensory latency mean decreased following the treatment; and the median nerve sensory amplitude mean and sensory conduction velocity mean increased. Conclusion: The present study suggests that vitamin B6 treatment improves clinical symptoms and sensory electrodiagnostic results in CTS patients, and thus is recommended for CTS treatment.

  15. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen;

    2011-01-01

    . We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... total scores, indicating a greater impact on self-concept, were reported by females and by individuals with experience from cancer in close relatives, whereas individuals with less formal education scored significantly higher on the stigma and vulnerability subscale. Scores in the upper quartile were...... more often reported by women (odds ratio 1.8) and by individuals with less education (OR 1.8). This study provides the first extended use of the Lynch syndrome self-concept scale and suggests that the majority of the Danish mutation carriers adapt well to the situation, though knowledge about...

  16. Leisure time physical activity in middle age predicts the metabolic syndrome in old age: results of a 28-year follow-up of men in the Oslo study

    Directory of Open Access Journals (Sweden)

    Sogaard Anne

    2007-07-01

    Full Text Available Abstract Background Data are scarce on the long term relationship between leisure time physical activity, smoking and development of metabolic syndrome and diabetes. We wanted to investigate the relationship between leisure time physical activity and smoking measured in middle age and the occurrence of the metabolic syndrome and diabetes in men that participated in two cardiovascular screenings of the Oslo Study 28 years apart. Methods Men residing in Oslo and born in 1923–32 (n = 16 209 were screened for cardiovascular diseases and risk factors in 1972/3. Of the original cohort, those who also lived in same area in 2000 were invited to a repeat screening examination, attended by 6 410 men. The metabolic syndrome was defined according to a modification of the National Cholesterol Education Program criteria. Leisure time physical activity, smoking, educational attendance and the presence of diabetes were self-reported. Results Leisure time physical activity decreased between the first and second screening and tracked only moderately between the two time points (Spearman's ρ = 0.25. Leisure time physical activity adjusted for age and educational attendance was a significant predictor of both the metabolic syndrome and diabetes in 2000 (odds ratio for moderately vigorous versus sedentary/light activity was 0.65 [95% CI, 0.54–0.80] for the metabolic syndrome and 0.68 [0.52–0.91] for diabetes (test for trend P Conclusion Physical activity during leisure recorded in middle age prior to the current waves of obesity and diabetes had an independent predictive association with the presence of the metabolic syndrome but not significantly so with diabetes 28 years later in life, when the subjects were elderly.

  17. Association between upper leg length and metabolic syndrome among US elderly participants-results from the NHANES (2009-2010)

    Institute of Scientific and Technical Information of China (English)

    Mike Pryzbek; Jian Liu

    2016-01-01

    Objective To examine the relationship between upper leg length (ULL) and metabolic syndrome (MetS) in older adults.Methods Data was collected from National Health and Nutritional Examination Survey (NHANES, 2009–2010). 786 individuals (385 males and 401 females) who were 60 years of age or older were included in this analysis. MetS was defined as having at least three of following conditions, i.e., cen-tral obesity, dyslipidemia, insulin resistance, and hypertension based on National Cholesterol Education Program guidelines. ULL was grouped into gender-specific tertiles.Results328 (41.7%) of participants were categorized as having MetS (38.7% in men and 49.1% in women,P = 0.002). Compared to individuals in the 1st tertile (T1) of ULL, those in the 3rd tertile (T3) had lower levels of triglycerides (120.8 vs. 153.1 mg/dL,P = 0.045), waist circumference (100.7vs. 104.2 cm,P = 0.049), and systolic blood pressure (126.7vs. 131.4 mmHg, P = 0.005), but higher levels of high-density-lipoprotein cholesterol (58.1vs. 52.4 mg/dL,P = 0.024). The odds ratios (95% CI) of MetS from multivariate logistic regression were 0.57 (0.32–1.03) for individuals in the T2 of ULL and 0.39 (0.24–0.64) for individuals in the T3 of ULL, respectively (P-value for the trend 0.022).Conclusions ULL was negatively associated with MetS in older adults. Further research is needed to identify potential mechanisms.

  18. Medication Use by Persons with Chronic Fatigue Syndrome: Results of a Randomized Telephone Survey in Wichita, Kansas

    Directory of Open Access Journals (Sweden)

    Reeves William C

    2003-12-01

    Full Text Available Abstract Background Chronic fatigue syndrome (CFS is characterized by profound fatigue, which substantially interferes with daily activities, and a characteristic symptom complex. Patients use a variety of prescribed and self-administered medications, vitamins, and supplements for relief of their symptoms. The objective of this study was to describe utilization of medications and supplements by persons with CFS and non-fatigued individuals representative of the general population of Wichita, Kansas. Methods We used a random-digit dialing telephone survey to identify persons with CFS in the general population of Wichita, Kansas. Subjects who on the basis of telephone interview met the CFS case definition, and randomly selected non-fatigued controls, were invited for a clinic evaluation that included self-reported use of medications and supplements. Sex-adjusted odds ratios and 95% confidence interval were estimated to measure the association between CFS and use of various drug categories. Results We clinically evaluated and classified 90 subjects as CFS during the study and also collected clinical data on 63 who never described fatigue. Subjects with CFS reported using 316 different drugs compared to 157 reported by non-fatigued controls. CFS subjects were more likely to use any drug category than controls (p = 0.0009. Pain relievers and vitamins/supplements were the two most common agents listed by both groups. In addition CFS persons were more likely to use pain relievers, hormones, antidepressants, benzodiazepines, gastro-intestinal, and central nervous system medications (Sex-adjusted odds ratios range = 2.97 – 12.78. Conclusion Although the reasons for increased use of these agents were not elucidated, the data indicated the CFS patients' need for symptom relief.

  19. Spontaneous Transient Lateral Thoracic Lung Herniation Resulting in Systemic Inflammatory Response Syndrome (SIRS) and Subsequent Contralateral Lung Injury

    OpenAIRE

    Antony Kaliyadan; Amal Kebede; Tabassum Ali; Michael Karchevsky; Bernard Vasseur; Nirav Patel

    2011-01-01

    Lung herniation is a relatively rare clinical entity that is most commonly either congenital or acquired traumatically. We describe a case of spontaneous lung herniation secondary to acute cough in an obese male smoker complicated by contralateral acute lung injury and systemic inflammatory response syndrome (SIRS). Mechanisms of lung herniation, classification, diagnosis, and management will be discussed.

  20. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen;

    2011-01-01

    An increasing number of individuals seek genetic counseling and hereby learn about hereditary cancer in the family. Lynch syndrome is associated with an inherited high risk for colorectal and gynecological cancer, but knowledge about how family members at risk perceive their situation is limited...

  1. Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study

    DEFF Research Database (Denmark)

    Gattermann, Norbert; Finelli, Carlo; Porta, Matteo Della;

    2010-01-01

    The prospective 1-year EPIC study enrolled 341 patients with myelodysplastic syndromes (MDS); although baseline iron burden was >2500ng/mL, approximately 50% were chelation-naïve. Overall median serum ferritin decreased significantly at 1 year (p=0.002). Decreases occurred irrespective of whether....... Alanine aminotransferase levels decreased significantly; change correlated significantly with reduction in serum ferritin (p...

  2. Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study

    DEFF Research Database (Denmark)

    Gattermann, Norbert; Finelli, Carlo; Porta, Matteo Della; Fenaux, Pierre; Ganser, Arnold; Guerci-Bresler, Agnes; Schmid, Mathias; Taylor, Kerry; Vassilieff, Dominique; Habr, Dany; Domokos, Gabor; Roubert, Bernard; Rose, Christian Schack; Kjeldsen, Lars

    2010-01-01

    The prospective 1-year EPIC study enrolled 341 patients with myelodysplastic syndromes (MDS); although baseline iron burden was >2500ng/mL, approximately 50% were chelation-naïve. Overall median serum ferritin decreased significantly at 1 year (p=0.002). Decreases occurred irrespective of whether...

  3. Risk factors for porcine reproductive and respiratory syndrome virus infection and resulting challenges for effective disease surveillance

    Directory of Open Access Journals (Sweden)

    Velasova Martina

    2012-10-01

    Full Text Available Abstract Background This study aimed to identify risk factors for active porcine reproductive and respiratory syndrome virus (PRRSV infection at farm level and to assess the probability of an infected farm being detected through passive disease surveillance in England. Data were obtained from a cross-sectional study on 147 farrow-to-finish farms conducted from April 2008 – April 2009. The risk factors for active PRRSV infection were identified using multivariable logistic regression analysis. The surveillance system was evaluated using a stochastic scenario tree model. Results Evidence of PRRSV circulation was confirmed on 35.1% (95%CI: 26.8-43.4 of farms in the cross sectional study, with a higher proportion of infected farms in areas with high pig density (more than 15000 pigs within 10 km radius from the farm. Farms were more likely to have active PRRSV infection if they used the live virus vaccine-Porcilis PRRS (OR=7.5, 95%CI: 2.5-22.8, were located in high pig density areas (OR=2.9, 95%CI: 1.0-8.3 or had dead pigs collected (OR=5.6, 95%CI: 1.7-18.3. Farms that weaned pigs at 28 days of age or later had lower odds of being PRRSV positive compared to those weaning at 21-27 days (OR=0.2, 95%CI: 0.1-0.7. The probability of detecting an infected farm through passive surveillance for disease was low (mode=0.074, 5th and 95th percentiles: 0.067; 0.083 respectively. In particular farms which used live virus vaccine had lower probabilities for detection compared to those which did not. Conclusions Risk factors identified highlight the importance of biosecurity measures for the incursion of PRRSV infection. The results further indicate that a combined approach of surveillance for infection and disease diagnosis is needed to assist effective control and/or elimination of PRRSV from the pig population.

  4. West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

    OpenAIRE

    Ilknur Erol; Semra Saygi; Senay Demir; Fusun Alehan; Feride Iffet Sahin

    2015-01-01

    West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and h...

  5. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

    DEFF Research Database (Denmark)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás;

    2015-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse...... alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant...... progerin splicing give hope to patients who are affected by HGPS.-Strandgren, C., Nasser, H. A., McKenna, T., Koskela, A., Tuukkanen, J., Ohlsson, C., Rozell, B., Eriksson, M. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas...

  6. [How to improve the results of treatment of myelodysplastic syndromes in the studies of Polish pediatric leukemia/lymphoma group].

    Science.gov (United States)

    Chybicka, A; Kołecki, P; Pietras, W; Wójcik, D; Turkiewicz, D; Armata, J; Eliasińska, A; Kowalczyk, J; Jackowska, T; Klus, K; Matysiak, M; Krauze, A; Stefańska, K; Rokicka-Milewska, R; Wiśniewska-Slusarz, H

    1998-01-01

    Fourty two children with myelodysplastic syndrome (MDS) treated in seven centres of The Polish Paediatric Leukaemia/Lymphoma Study Group in period 1975-1998 were included in the study. In 16 children RAEB-T, in 3 CMML, in 10 RA and in 13 RAEB were diagnosed. BMT is the best therapy for children with MDS. For children, who have not a donor for BMT, Roacutan therapy seems to be the most effective. PMID:10731943

  7. RESULTS OF LONG-TERM THERAPY WITH GROWTH-HORMONE IN 2 DOSE REGIMENS IN TURNER SYNDROME

    NARCIS (Netherlands)

    NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ

    1993-01-01

    Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though

  8. Risk factors for porcine reproductive and respiratory syndrome virus infection and resulting challenges for effective disease surveillance

    OpenAIRE

    Velasova Martina; Alarcon Pablo; Williamson Susanna; Wieland Barbara

    2012-01-01

    Abstract Background This study aimed to identify risk factors for active porcine reproductive and respiratory syndrome virus (PRRSV) infection at farm level and to assess the probability of an infected farm being detected through passive disease surveillance in England. Data were obtained from a cross-sectional study on 147 farrow-to-finish farms conducted from April 2008 – April 2009. The risk factors for active PRRSV infection were identified using multivariable logistic regression analysis...

  9. Risk factors for porcine reproductive and respiratory syndrome virus infection and resulting challenges for effective disease surveillance

    OpenAIRE

    Velasova, Martina; Alarcon, Pablo; Williamson, Susanna; Wieland, Barbara

    2012-01-01

    Background This study aimed to identify risk factors for active porcine reproductive and respiratory syndrome virus (PRRSV) infection at farm level and to assess the probability of an infected farm being detected through passive disease surveillance in England. Data were obtained from a cross-sectional study on 147 farrow-to-finish farms conducted from April 2008 – April 2009. The risk factors for active PRRSV infection were identified using multivariable logistic regression analysis. The sur...

  10. [Outbreak of carpal tunnel syndrome of the upper limbs in automobile seat assemblers: results of exposure evaluation and clinical investigation].

    Science.gov (United States)

    Barbieri, P G; Colombini, D; Rocco, A; Custureri, F; Paderno, G

    1996-01-01

    A group of 59 female workers in the sewing and upholstery departments of a factory manufacturing automobile seats underwent clinical and instrumental tests following reports of several cases of suspected carpal tunnel syndrome. A risk evaluation analysis for disorders attributable to repeated trauma of the upper limbs (WMSDs) was simultaneously carried out using the protocol recommended by the EPM Research Unit in Milan. Evidence was found of a high frequency of elementary actions associated with considerable muscular involvement along with inadequate recovery periods. The clinical investigation revealed an unusually high percentage of carpal tunnel syndromes, often associated with Guyon channel syndrome. This disorder affects males and females equally, is often bilateral, and is not associated with known non-occupational factors. The widespread outbreak of work-related musculo-skeletal disorders reported in the departments in question may have arisen from a combination of significant risk factors relating to the types of activities performed, and the long service of the workers. It is reasonable to assume that failure to adopt technical preventive and organisational measures may have stemmed primarily from a poor evaluation of the relevant occupational risks, and from many years of substandard health surveillance practices. PMID:9148122

  11. GLP-2 administration results in increased proliferation but paradoxically an adverse outcome in a juvenile piglet model of short bowel syndrome

    DEFF Research Database (Denmark)

    Pereira-Fantini, Prue M; Nagy, Eva S; Thomas, Sarah L;

    2008-01-01

    OBJECTIVE: The objective of the present study was to examine the effect of glucagon-like peptide-2 (GLP-2) administration in a piglet, juvenile model of short bowel syndrome. MATERIALS AND METHODS: Four-week-old piglets underwent either a sham operation or 75% small bowel resection. Postoperatively......-2 administration resulted in decreased weight gain, serum albumin, and disaccharidases in both sham and small bowel resection piglets (P administration...... in a juvenile short bowel syndrome model. Contrary to adult rodent studies, administration of GLP-2 resulted in adverse outcomes including reduced ability to gain weight; decreased serum albumin, tissue maltase, and sucrase; and villous atrophy. We anticipate this information will have important implications...

  12. Carpal tunnel syndrome in hemodialysis patients as a dialysis-related amyloidosis manifestation – incidence, risk factors and results of surgical treatment

    OpenAIRE

    Kopeć, Jerzy; Gądek, Artur; Drożdż, Maciej; Miśkowiec, Krzysztof; Dutka, Julian; Sydor, Antoni; Chowaniec, Eve; Sułowicz, Władysław

    2011-01-01

    Summary Background Carpal tunnel syndrome (CTS) is the most common complication of dialysis-related amyloidosis (DRA) developing in patients on long-term dialysis therapy. The aim of this study was to evaluate the incidence of CTS and identify factors influencing the development of CTS in patients on maintenance hemodialysis, as well as results of its surgical treatment. Material/Methods The study included 386 patients, among whom CTS was diagnosed in 40 patients (10.4%) on the basis of signs...

  13. Genetics Home Reference: Nakajo-Nishimura syndrome

    Science.gov (United States)

    ... result, Nakajo-Nishimura syndrome is classified as an autoinflammatory disorder. Abnormal inflammation likely underlies many of the ... Condition ALDD autoinflammation, lipodystrophy, and dermatosis syndrome Japanese autoinflammatory syndrome with lipodystrophy JASL Nakajo syndrome NKJO Related ...

  14. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  15. West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

    Directory of Open Access Journals (Sweden)

    Ilknur Erol

    2015-01-01

    Full Text Available West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9 (p11.2;p22 and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome.

  16. An Early Warning System Based on Syndromic Surveillance to Detect Potential Health Emergencies among Migrants: Results of a Two-Year Experience in Italy

    Directory of Open Access Journals (Sweden)

    Christian Napoli

    2014-08-01

    Full Text Available Profound geopolitical changes have impacted the southern and eastern Mediterranean since 2010 and defined a context of instability that is still affecting several countries today. Insecurity combined with the reduction of border controls has led to major population movements in the region and to migration surges from affected countries to southern Europe, especially to Italy. To respond to the humanitarian emergency triggered by this migration surge, Italy implemented a syndromic surveillance system in order to rapidly detect potential public health emergencies in immigrant reception centres. This system was discontinued after two years. This paper presents the results of this experience detailing its strengths and weaknesses in order to document the applicability and usefulness of syndromic surveillance in this specific context.

  17. Midterm results of left coronary artery reimplantation through the transverse sinus of the pericardium in adult Bland-White-Garland syndrome.

    Science.gov (United States)

    Kataoka, Go; Nakano, Kiyoharu; Asano, Ryota; Sato, Atsuhiko; Kodera, Kojiro; Tatsuishi, Wataru; Sudo, Shinji

    2015-12-01

    The anomalous origin of the left coronary artery from the pulmonary artery - known as Bland-White-Garland syndrome - is a rare congenital malformation that affects 1 in 300,000 live births. Most patients die in infancy without any surgical treatment. Some patients who survive past childhood often have varying symptoms such as myocardial ischemia, impaired left ventricular function, mitral regurgitation, and progressive heart failure, depending on the development collateral circulation. In the present report, we describe a procedure wherein the left coronary artery ostium was translocated through the transverse sinus of the pericardium in a 43-year-old mother with Bland-White-Garland syndrome and concomitant mitral regurgitation and report on the associated midterm results. PMID:26943392

  18. Mesenteric ischemia after capecitabine treatment in rectal cancer and resultant short bowel syndrome is not an absolute contraindication for radical oncological treatment

    International Nuclear Information System (INIS)

    Thrombotic events, arterial or venous in origin, still remain a source of substantial morbidity and mortality in cancer patients. The propensity for their development in oncology patients is partially a consequence of the disease itself and partially a result of our attempts to treat it. One of the rarest and deadliest thromboembolic complications is arterial mesenteric ischemia. The high mortality rate is caused by its rarity and by its non-specific clinical presentation, both of which make early diagnosis and treatment difficult. Hence, most diagnoses and treatments occur late in the course of the disease. The issue survivors of arterial mesenteric ischemia may face is short bowel syndrome, which has become a chronic condition after the introduction of parenteral nutrition at home. We present a 73-year-old rectal cancer patient who developed acute arterial mesenteric thrombosis at the beginning of the pre-operative radiochemotherapy. Almost the entire length of his small intestine, except for the proximal 50 cm of it, and the ascending colon had to be resected. After multiorgan failure his condition improved, and he was able to successfully complete radical treatment (preoperative radiotherapy and surgery) for the rectal carcinoma, despite developing short bowel syndrome (SBS) and being dependent upon home-based parenteral nutrition to fully cover his nutritional needs. Mesenteric ischemia and resultant short bowel syndrome are not absolute contraindications for radical oncological treatment since such patients can still achieve long-term remission

  19. Beals Syndrome

    Science.gov (United States)

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  20. Contribution of INTRAMUSCULAR Autologous Adipose Tissue-Derived Stem Cell Injections to Treat Cutaneous Radiation Syndrome: Preliminary Results.

    Science.gov (United States)

    Riccobono, Diane; Agay, Diane; François, Sabine; Scherthan, Harry; Drouet, Michel; Forcheron, Fabien

    2016-08-01

    Cutaneous radiation syndrome caused by high dose located irradiation is characterized by delayed symptoms, incomplete wound healing, and poor revascularization. Subcutaneous adipose tissue derived stromal/stem cells have been shown to improve skin repair in a minipig model of cutaneous radiation syndrome despite a subcutaneous defect being a consequence of radio-induced muscular fibrosis. Based on the pro-myogenic potential of stromal/stem cells, a new protocol combining subcutaneous and intramuscular injections was evaluated in a preliminary study. Six female minipigs were locally irradiated at the dose of 50 Gy using a Co source (0.6 Gy min) and randomly divided into two groups. Three animals received the vehicle (phosphate-buffer-saline solution) and three animals received three injections of 75 × 10 adipose tissue derived stromal/stem cells each time (day 25, 46, and 66 post-irradiation). Pigs were euthanized on day 76 post-irradiation before development of clinical skin symptoms. All minipigs exhibited a homogeneous skin evolution. Macroscopic observation of irradiated muscles showed prominent fibrosis and necrosis areas in controls as opposed to adipose tissue-derived stromal/stem cells injected animals. Moreover, muscle biopsy analysis highlighted a recruitment of myofibroblasts (Immune Reactive Score: p work is ongoing to evaluate this therapeutic strategy on a larger animal number with a longer clinical follow-up. PMID:27356055

  1. Successful management of aortic thrombi resulting in spinal cord infarction in a patient with antiphospholipid antibody syndrome and acute cholecystitis

    Directory of Open Access Journals (Sweden)

    Izumi M

    2011-12-01

    Full Text Available Manabu Izumi, Shoko Teraoka, Keisuke Yamashita, Kenji Matsumoto, Tomohiro Muronoi, Yoshimitsu Izawa, Chikara Yonekawa, Masaki Ano, Masayuki SuzukawaDepartment of Emergency and Critical Care Medicine, Jichi Medical University, Tochigi, JapanAbstract: A 74-year-old man with coronary artery disease was suffering from acute nonobstructive cholecystitis and was admitted to a nearby hospital. Dual antiplatelet (aspirin and ticlopidine therapy was discontinued before preparation for surgical resection of the gall bladder. During his time in hospital he was aware of lumbar pain and weakness in both legs. He was transferred to our hospital for further evaluation and therapy. Diffuse intra-aortic thrombi were revealed by computed tomography with contrast media, and magnetic resonance imaging showed spinal cord infarction. However, computed tomography scans of the descending aorta obtained 4 months before admission exhibited no signs of atherosclerotic plaques or intra-aortic thrombi. Laboratory data suggest that antiphospholipid antibody syndrome might have caused these acute multiple intra-arterial thrombi. By restarting dual antiplatelet therapy and increasing the dose of heparin (from 10,000 IU/day to 15,000 IU/day we successfully managed the patient's clinical condition and symptoms. It is important to understand that stopping antiplatelet therapy may rapidly grow thrombi in patients with a hypercoagulative state.Keywords: intra-aortic thrombus, antiphospholipid antibody syndrome, spinal cord infarction

  2. Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm.

    Science.gov (United States)

    Schneider, Maude; Eliez, Stephan; Birr, Julie; Menghetti, Sarah; Debbané, Martin; Van der Linden, Martial

    2016-03-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype. PMID:26914469

  3. Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study.

    Science.gov (United States)

    Gattermann, Norbert; Finelli, Carlo; Porta, Matteo Della; Fenaux, Pierre; Ganser, Arnold; Guerci-Bresler, Agnes; Schmid, Mathias; Taylor, Kerry; Vassilieff, Dominique; Habr, Dany; Domokos, Gabor; Roubert, Bernard; Rose, Christian

    2010-09-01

    The prospective 1-year EPIC study enrolled 341 patients with myelodysplastic syndromes (MDS); although baseline iron burden was >2500ng/mL, approximately 50% were chelation-naïve. Overall median serum ferritin decreased significantly at 1 year (p=0.002). Decreases occurred irrespective of whether patients were chelation-naïve or previously chelated; changes were dependent on dose adjustments and ongoing iron intake. Sustained reductions in labile plasma iron were observed. Discontinuation rate (48.7%) and adverse event profile were consistent with previously reported deferasirox data in MDS. Alanine aminotransferase levels decreased significantly; change correlated significantly with reduction in serum ferritin (p<0.0001). This large dataset prospectively confirms the efficacy and well characterizes the safety profile of deferasirox in MDS. PMID:20451251

  4. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical ... and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes ...

  5. Exploitation of the speckle field statistics as an aid to diagnosis of the acute irradiation cutaneous syndrome: comparison of biophysical and biological results

    International Nuclear Information System (INIS)

    The objective of this research thesis is to demonstrate the possibility of using a non-invasive optical method for the in-vivo diagnosis and prognosis of the acute irradiation cutaneous syndrome. The author first describes the choice of an optical investigation method for application in dermatology. A conventional frequency analysis of the speckle field sampling is completed by a stochastic approach in order to extract parameters which characterize speckle patterns. An experimental protocol is then tested in order to better understand the parameter behaviour with respect to some physical properties of synthetic diffusing media. The author then reports the in-vivo application of this method to the acute irradiation cutaneous syndrome in the case of swine. Results obtained on several animals demonstrate the possibility of discrimination between irradiated areas of normal areas several weeks before the emergence of the first clinical signs. The author tries to understand the results obtained on a radiological burn comparing with histological results. A correlation appears between speckle parameters and histological analysis. Results are also compared with those obtained on other tested media

  6. Skeletal and dermatological manifestations of the nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years; Skelettale und kutane Charakteristika des naevoiden Basalzellkarzinomsyndroms (Gorlin-Goltz-Syndrom) Ergebnisse von 8 Patienten aus 12 Jahren. Ergebnisse von 8 Patienten aus 12 Jahren

    Energy Technology Data Exchange (ETDEWEB)

    Rupprecht, M.; Barvencik, F.; Amling, M.; Pogoda, P. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie; Universitaetsklinikum Hamburg-Eppendorf (Germany). Zentrum fuer Biomechanik und Skelettbiologie; Mensing, C.H. [Asklepios Klinik St. Georg, Hamburg (Germany). Eduard-Arning-Klinik fuer Dermatologie und Allergologie; Ittrich, H. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik fuer Diagnostische und Interventionelle Radiologie; Heiland, M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Zahn-, Mund-, Kiefer- und Gesichtschirurgie; Rueger, J.M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie

    2007-06-15

    Purpose: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150 000 and diagnosis of this syndrome is often an accidental finding of radiological investigations. The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies. Materials and Methods: Between 1994 and 2005 the demographic, clinical, radiological and histological data of 8 patients with NBCCS were retrospectively analyzed. Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria. The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri. Results: Between 1994 and 2005 8 patients (3 females and 5 males) with NBCCS were treated in our departments. The average age at the time of diagnosis of NBCCS was 49.9 years. All patients had a minimum of two major criteria. The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients). There was no gender-related or age-related predilection and only one patient was affected with pain in his fingers which radiologically correlated to small cystic bone lesions (''flame-shaped lucencies''). (orig.)

  7. Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.

    Directory of Open Access Journals (Sweden)

    Sung-Jin Jeong

    Full Text Available It has recently been discovered that Collagen III, the encoded protein of the type IV Ehlers-Danlos Syndrome (EDS gene, is one of the major constituents of the pial basement membrane (BM and serves as the ligand for GPR56. Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neurons transmigrate through the BM causing severe mental retardation and frequent seizures. To further characterize the brain phenotype of Col3a1 knockout mice, we performed a detailed histological analysis. We observed a cobblestone-like cortical malformation, with BM breakdown and marginal zone heterotopias in Col3a1⁻/⁻ mouse brains. Surprisingly, the pial BM appeared intact at early stages of development but starting as early as embryonic day (E 11.5, prominent BM defects were observed and accompanied by neuronal overmigration. Although collagen III is expressed in meningeal fibroblasts (MFs, Col3a1⁻/⁻ MFs present no obvious defects. Furthermore, the expression and posttranslational modification of α-dystroglycan was undisturbed in Col3a1⁻/⁻ mice. Based on the previous finding that mutations in COL3A1 cause type IV EDS, our study indicates a possible common pathological pathway linking connective tissue diseases and brain malformations.

  8. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.)

  9. Antiphospholipid Syndrome

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  10. Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients.

    Directory of Open Access Journals (Sweden)

    Jean-David Zeitoun

    Full Text Available BACKGROUND AND OBJECTIVES: Ehlers-Danlos syndromes (EDS are a heterogeneous group of heritable connective tissue disorders. Gastrointestinal manifestations in EDS have been described but their frequency, nature and impact are poorly known. We aimed to assess digestive features in a national cohort of EDS patients. METHODS: A questionnaire has been sent to 212 EDS patients through the French patient support group, all of which had been formally diagnosed according to the Villefranche criteria. The questionnaire included questions about digestive functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index, KESS scoring system and the Rome III criteria. RESULTS: Overall, 135 patients (64% response rate completed the questionnaire and 134 were analyzable (123 women; 91%. Mean age and Body Mass Index were respectively 35±14.7 years and 24.3±6.1 kg/m(2. The most common EDS subtype was hypermobility form (n=108; 80.6%. GIQLI and KESS median values were respectively 63.5 (27-117 and 19 [13.5-22]. Eighty four percent of patients had functional bowel disorders (FBD according to the Rome III criteria. An irritable bowel syndrome according to the same criteria was observed in 64 patients (48% and 48 patients (36% reported functional constipation. A gastro-esophageal reflux disease (GERD was reported in 90 patients (68.7%, significantly associated with a poorer GIQLI (60.5±16.8 versus 75.9±20.3; p<0.0001. GIQLI was also negatively impacted by the presence of an irritable bowel syndrome or functional constipation (p=0.007. There was a significant correlation between FBD and GERD. CONCLUSIONS: Natural frequency of gastrointestinal manifestations in EDS seems higher than previously assessed. FBD and GERD are very common in our study population, the largest ever published until now. Their impact is herein shown to be important. A systematic clinical assessment of digestive features should be recommended in EDS.

  11. The impact of age on the diagnosis and therapy of myelodysplastic syndromes: results from a retrospective multicenter analysis in Germany.

    Science.gov (United States)

    Gattermann, Norbert; Kündgen, Andrea; Kellermann, Lenka; Zeffel, Matti; Paessens, Bernadette; Germing, Ulrich

    2013-12-01

    Myelodysplastic syndromes (MDS) is a disease of predominantly elderly patients with a median age of >70 yrs. However, data on the management of these patients outside of clinical trials are scarce. To assess patterns of MDS management in routine patient care with regard to the impact of age, we conducted a multicenter, representative survey of MDS health services in Germany. Data of 269 patients treated at 57 institutions were collected from preplanned chart reviews and were analyzed retrospectively. At diagnosis, median age was 70 yrs, 50% of patients had a Karnofsky index (KI) of 90%, and 12% had a comorbidity index ≥ 3 according to Sorror et al. (J Clin Oncol, 25, 2007, 4246). Cytogenetic analysis and International Prognostic Scoring System (IPSS) risk assessment were performed significantly less frequently in patients >75 yrs than in patients ≤ 75 yrs (P 75 yrs (51% vs. 37%, P = 0.007). In bivariate analysis age ≤ 75 yrs (y/n, P = 0.007) was a significant predictor for active treatment with no correlation with the other predictors [IPSS risk score int-2 or high (y/n, P = 0.005), WHO subtypes RCUD (y/n, P < 0.001), RCMD (y/n, P = 0.003), RAEB II (y/n, P < 0.001), or CMML I (y/n, P = 0.020)]. This survey confirms the impact of age on the thoroughness of MDS diagnosis and the decision for active treatment. As cytogenetic analysis and risk assessment are essential for the choice of appropriate therapy, elderly patients in particular may not be receiving adequate treatment. PMID:24102637

  12. Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice.

    Science.gov (United States)

    Raud, Sirli; Reimets, Riin; Loomets, Maarja; Sütt, Silva; Altpere, Alina; Visnapuu, Tanel; Innos, Jürgen; Luuk, Hendrik; Plaas, Mario; Volke, Vallo; Vasar, Eero

    2015-08-01

    Wolfram syndrome, induced by mutation in WFS1 gene, increases risk of developing mood disorders in humans. In mice, Wfs1 deficiency cause higher anxiety-like behaviour and increased response to anxiolytic-like effect of diazepam, a GABAA receptor agonist. As GABAergic system is also target for ethanol, we analysed its anxiolytic-like and sedative properties in Wfs1-deficient mice using elevated plus-maze test and tests measuring locomotor activity and coordination, respectively. Additionally loss of righting reflex test was conducted to study sedative/hypnotic properties of ethanol, ketamine and pentobarbital. To evaluate pharmacokinetics of ethanol in mice enzymatic colour test was used. Finally, gene expression of alpha subunits of GABAA receptors following ethanol treatment was studied by real-time-PCR. Compared to wild-types, Wfs1-deficient mice were more sensitive to ethanol-induced anxiolytic-like effect, but less responsive to impairment of motor coordination. Ethanol and pentobarbital, but not ketamine, caused longer duration of hypnosis in Wfs1-deficient mice. The expression of Gabra2 subunit at 30 minutes after ethanol injection was significantly increased in the frontal cortex of Wfs1-deficient mice as compared to respective vehicle-treated mice. For the temporal lobe, similar change in Gabra2 mRNA occurred at 60 minutes after ethanol treatment in Wfs1-deficient mice. No changes were detected in Gabra1 and Gabra3 mRNA following ethanol treatment. Taken together, increased anxiolytic-like effect of ethanol in Wfs1-deficient mice is probably related to altered Gabra2 gene expression. Increased anti-anxiety effect of GABAA receptor agonists in the present work and earlier studies (Luuk et al., 2009) further suggests importance of Wfs1 gene in the regulation of emotional behaviour. PMID:25725334

  13. Relationship of the area measurement of the large endolymphatic duct and sac syndrome as well as the clinical symptoms with CT and MR imaging results

    Energy Technology Data Exchange (ETDEWEB)

    Park, Ji Sang; Hong, Hyun Sook; Lee, Jong Sea; Kim, Dae Ho; Lee, Hae Kyung; Yi, Beom Ha; Cha, Jang Gyu; Park, Seong Jin; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2008-08-15

    To evaluate the CT and MRI findings of the large endolymphatic duct or sac syndrome (LEDS) and its associated anomalies, with clinical features. We retrospectively reviewed the MR and CT images of 52 ears obtained from 26 patients with LEDS. We reviewed the clinical findings, audiology testing, and treatment results. The degree of hearing loss was classified from normal to profound, based on pure tone audiometry. The largest areas were measured at each endolymphatic duct and analyzed to determine whether a correlation exists with the degree of hearing loss. We also analyzed the differences in measurements between CT and MRI findings. All 26 patients had some degree of sensorineural hearing loss, which resulted in 18 ears to undergo a cochlear implantation. One patient was diagnosed with Cornelia de Lange syndrome. Five patients had a sudden hearing loss onset. Ten ears had incomplete cochlear partitions, whereas 28 ears had enlarged vestibules. All patients had severe to profound hearing loss. We found no statistical correlation between the size of the largest area of the endolymphatic duct and the degree of hearing loss. The mean area of the endolymphatic ducts, as per an MRI examination, revealed slightly greater areas than the CT findings, although the differences were not significant. Enlarged vestibules and incomplete partitions of the cochlea were common anomalies associated with LEDS. We found no statistical correlation between the largest area of the endolymphatic duct or sac with the degree of hearing loss.

  14. Relationship of the area measurement of the large endolymphatic duct and sac syndrome as well as the clinical symptoms with CT and MR imaging results

    International Nuclear Information System (INIS)

    To evaluate the CT and MRI findings of the large endolymphatic duct or sac syndrome (LEDS) and its associated anomalies, with clinical features. We retrospectively reviewed the MR and CT images of 52 ears obtained from 26 patients with LEDS. We reviewed the clinical findings, audiology testing, and treatment results. The degree of hearing loss was classified from normal to profound, based on pure tone audiometry. The largest areas were measured at each endolymphatic duct and analyzed to determine whether a correlation exists with the degree of hearing loss. We also analyzed the differences in measurements between CT and MRI findings. All 26 patients had some degree of sensorineural hearing loss, which resulted in 18 ears to undergo a cochlear implantation. One patient was diagnosed with Cornelia de Lange syndrome. Five patients had a sudden hearing loss onset. Ten ears had incomplete cochlear partitions, whereas 28 ears had enlarged vestibules. All patients had severe to profound hearing loss. We found no statistical correlation between the size of the largest area of the endolymphatic duct and the degree of hearing loss. The mean area of the endolymphatic ducts, as per an MRI examination, revealed slightly greater areas than the CT findings, although the differences were not significant. Enlarged vestibules and incomplete partitions of the cochlea were common anomalies associated with LEDS. We found no statistical correlation between the largest area of the endolymphatic duct or sac with the degree of hearing loss

  15. Clinical Spectrum Time Course in Anti Jo-1 Positive Antisynthetase Syndrome: Results From an International Retrospective Multicenter Study.

    Science.gov (United States)

    Cavagna, Lorenzo; Nuño, Laura; Scirè, Carlo Alberto; Govoni, Marcello; Longo, Francisco Javier Lopez; Franceschini, Franco; Neri, Rossella; Castañeda, Santos; Sifuentes Giraldo, Walter Alberto; Caporali, Roberto; Iannone, Florenzo; Fusaro, Enrico; Paolazzi, Giuseppe; Pellerito, Raffaele; Schwarting, Andreas; Saketkoo, Lesley Ann; Ortego-Centeno, Norberto; Quartuccio, Luca; Bartoloni, Elena; Specker, Christof; Murcia, Trinitario Pina; La Corte, Renato; Furini, Federica; Foschi, Valentina; Corral, Javier Bachiller; Airò, Paolo; Cavazzana, Ilaria; Martínez-Barrio, Julia; Hinojosa, Michelle; Giannini, Margherita; Barsotti, Simone; Menke, Julia; Triantafyllias, Kostantinos; Vitetta, Rosetta; Russo, Alessandra; Bajocchi, Gianluigi; Bravi, Elena; Barausse, Giovanni; Bortolotti, Roberto; Selmi, Carlo; Parisi, Simone; Montecucco, Carlomaurizio; González-Gay, Miguel Angel

    2015-08-01

    Anti Jo-1 antibodies are the main markers of the antisynthetase syndrome (ASSD), an autoimmune disease clinically characterized by the occurrence of arthritis, myositis, and interstitial lung disease (ILD). These manifestations usually co-occur (for practical purpose complete forms) in the same patient, but cases with only 1 or 2 of these findings (for practical purpose incomplete forms) have been described. In incomplete forms, the ex novo occurrence of further manifestations is possible, although with frequencies and timing not still defined. The aim of this international, multicenter, retrospective study was to characterize the clinical time course of anti Jo-1 positive ASSD in a large cohort of patients. Included patients should be anti Jo-1 positive and with at least 1 feature between arthritis, myositis, and ILD. We evaluated the differences between complete and incomplete forms, timing of clinical picture appearance and analyzed factors predicting the appearance of further manifestations in incomplete ASSD. Finally, we collected 225 patients (58 males and 167 females) with a median follow-up of 80 months. At the onset, complete ASSD were 44 and incomplete 181. Patients with incomplete ASSD had frequently only 1 of the classic triad findings (110 cases), in particular, isolated arthritis in 54 cases, isolated myositis in 28 cases, and isolated ILD in 28 cases. At the end of follow-up, complete ASSD were 113, incomplete 112. Only 5 patients had an isolated arthritis, only 5 an isolated myositis, and 15 an isolated ILD. During the follow-up, 108 patients with incomplete forms developed further manifestations. Single main feature onset was the main risk factor for the ex novo appearance of further manifestation. ILD was the prevalent ex novo manifestation (74 cases). In conclusion, ASSD is a condition that should be carefully considered in all patients presenting with arthritis, myositis, and ILD, even when isolated. The ex novo appearance of further

  16. Risk of Dumping Syndrome after Sleeve Gastrectomy and Roux-en-Y Gastric Bypass: Early Results of a Multicentre Prospective Study.

    Science.gov (United States)

    Ramadan, M; Loureiro, M; Laughlan, K; Caiazzo, R; Iannelli, A; Brunaud, L; Czernichow, S; Nedelcu, M; Nocca, D

    2016-01-01

    Background. Bariatric surgery is an important field of surgery. An important complication of bariatric surgery is dumping syndrome (DS). Aims. To evaluate the incidence of DS in patients undergoing bariatric surgery. Methods. 541 patients included from 5 nutrition and bariatric centers in France underwent either LSG or LRYGB. They were evaluated at 1 month (M1) and 6 months (M6) postoperatively by an interview and completion of a dumping syndrome questionnaire. Results. 268 patients underwent LSG (Group A) and 273 underwent LRYGB. From the LRYGB patients 229 had mechanical gastrojejunoanal anastomosis with 30 mm linear stapler (Group B) and 44 had manual (hand sewn) 15 mm gastrojejunal anastomosis (Group C). Overall incidence of DS was 8.5% at M1 and M6. In LSG group (Group A), only 4 patients (1.49%) reported episodes of DS at M1 and 3 (1.12%) at M6. In Group B, 41 patients (17.90%) reported episodes of DS at M1 and 43 (18.78%) at M6. Group C experienced one case (2.27%) of DS at M1 and none (0%) at M6. Conclusions. Patients undergoing LRYGB, especially with larger gastrojejunal anastomosis, are more prone to developing DS following surgery than patients undergoing LSG or LRYGB with calibrated manual anastomosis. PMID:27242898

  17. The Erlangen Dose Optimization trial for low-dose radiotherapy of benign painful elbow syndrome. Long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen, Department of Radiation Oncology, Erlangen (Germany)

    2014-03-15

    To evaluate the long-term efficacy of pain reduction by two dose fractionation schedules used for low-dose radiotherapy of painful elbow syndrome. Between February 2006 and February 2010, 199 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 9-57 months). The overall early, delayed and long-term response rates for all patients were 80, 90 and 94 %, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 59.6 ± 20.2 and 55.7 ± 18.0 (p = 0.46); 32.1 ± 24.5 and 34.4 ± 22.5 (p = 0.26); 27.0 ± 27.7 and 23.5 ± 21.6 (p = 0.82) and 10.7 ± 15.0 and 21.5 ± 26.9 (p = 0.12), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 8.7 ± 2.9 and 8.1 ± 3.1 (p = 0.21); 4.5 ± 3.2 and 5.0 ± 3.4 (p = 0.51); 3.9 ± 3.6 and 2.8 ± 2.8 (p = 0.19) and 1.5 ± 2.3 and 2.4 ± 3.5 (p = 0.27), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p = 0.28). Low-dose radiotherapy is an effective treatment for the management of benign painful elbow syndrome. For radiation protection reasons, the dose for a radiotherapy series should not exceed 3.0 Gy. (orig.) [German] Untersuchung der

  18. Joubert syndrome

    International Nuclear Information System (INIS)

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  19. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  20. Mesenteric ischemia after capecitabine treatment in rectal cancer and resultant short bowel syndrome is not an absolute contraindication for radical oncological treatment

    Directory of Open Access Journals (Sweden)

    Perpar Ana

    2015-06-01

    Full Text Available Background. Thrombotic events, arterial or venous in origin, still remain a source of substantial morbidity and mortality in cancer patients. The propensity for their development in oncology patients is partially a consequence of the disease itself and partially a result of our attempts to treat it. One of the rarest and deadliest thromboembolic complications is arterial mesenteric ischemia. The high mortality rate is caused by its rarity and by its non-specific clinical presentation, both of which make early diagnosis and treatment difficult. Hence, most diagnoses and treatments occur late in the course of the disease. The issue survivors of arterial mesenteric ischemia may face is short bowel syndrome, which has become a chronic condition after the introduction of parenteral nutrition at home.

  1. Ultrasonographic (duplex-Doppler) and isotopic evaluation of surgical treatment results among the patients with Leriche syndrome

    International Nuclear Information System (INIS)

    To assess what extent a clinical evaluation of lower limbs blood supply in an early pre-operative period is convergent with the results of Doppler ultrasonography and perfusion scintigraphy using 99m Tc MIBI, the pre- and postoperative examination was conducted on a group of 20 consecutive patients (15 male and 5 female) operated on in the 2. Surgical Department Medical University of Lodz. Basing on the obtained results it was observed high sensitivity for Doppler ultrasonography (89%) and for perfusion scintigraphy (76%) and a considerable convergence with the clinical evaluation of the patients. Both examinations can create an expansion of the possibilities of the objective presentation of the treatment results. (author)

  2. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

    NARCIS (Netherlands)

    W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

    2013-01-01

    textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth i

  3. Explanation on the Molecular Mechanism of "Lack of Vital Essence Resulting in Deficiency Syndrome" of Asthenia Cold Syndrome and Asthenia Hot Syndrome Rats%基因芯片技术阐释虚寒证与虚热证大鼠“精气夺则虚”的分子机制

    Institute of Scientific and Technical Information of China (English)

    韩冰冰; 王世军

    2013-01-01

    目的:采用基因芯片技术阐释虚寒证与虚热证大鼠“精气夺则虚”的共同分子机制.方法:使用中药复方建立虚寒证、虚热证大鼠模型,基因芯片检测大鼠肝脏基因表达,筛选差异表达基因并进行聚类分析,荧光定量PCR验证芯片结果.结果:聚类结果显示虚寒模型组与虚热模型组基因表达轮廓具有相似性,与空白对照组有差异.虚寒模型组、虚热模型组与空白对照组相比较,存在共有差异表达基因28条,其中16条免疫应答相关基因.结论:虚寒证与虚热证大鼠均出现了免疫应答相关基因表达的显著改变,这可能是虚寒证与虚热证大鼠“精气夺则虚”的分子机制.%Objective:To explain the molecular mechanism of "lack of vital essence resulting in deficiency syndrome" in both asthenia cold syndrome rats and asthenia hot syndrome rats by gene chip technology.Methods:The Asthenia cold and hot syndrome rats models were induced by compound preparation of Traditional Chinese Medicine.The liver gene expression in each group was detected by gene chip.We selected the differential expression genes,analyzed the genes by cluster and conducted the significant analysis on the genetic function of differential genes.A part of genes were selected to test the accuracy of results by RT -PCR.Results:The cluster analysis showed the profile of genes expression of asthenia cold model group was similar to asthenia hot model group.Both asthenia cold model group and asthenia hot model group were different from control group.Among asthenia cold model group,asthenia hot model group and control group,there were 28 strips of differential expression gene,among which 16 stips were about immune response.Conclusion:Obvious changes have been both arose in asthenia cold model group and asthenia hot model group about genes immune response,which is possibly the molecular mechanism of "lack of vital essence resulting in deficiency syndrome".

  4. Preliminary assessment of CT-scanning results in children with ataxia-teleangiectasia (Louis-Bar's syndrome)

    International Nuclear Information System (INIS)

    The results of computer tomography scanning of 5 children with ataxia-teleangiectasia are discussed. In all children CT-scanning has shown atrophy of cerebellum, in 4 children widening of 4 ventricles of the brain, cisterns of cerebellar angles and supratentorial cisterns. CT-scanning in children with ataxia-teleangiectasia may replace current invasive diagnostic techniques e.g. pneumocephaly, cerebral arteriography, etc. (author)

  5. Joubert Syndrome

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome Information Page Table of Contents (click to ... Organizations Related NINDS Publications and Information What is Joubert Syndrome? Joubert syndrome is a rare brain malformation ...

  6. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  7. Blood pressure normalization by fixed perindopril/indapamide combination in hypertensive patients with or without associate metabolic syndrome: results of the OPTIMAX 2 study

    Directory of Open Access Journals (Sweden)

    Jean-Jacques Mourad

    2008-05-01

    Full Text Available Jean-Jacques Mourad1, Dulce Lameira1, Pierre-Jean Guillausseau21APHP, Service de Médecine interne, Hôpital Avicenne, Bobigny, France; 2APHP, Service de Médecine B, Hôpital Lariboisière, et Université Paris, Paris, FranceAbstract: The aim of the observational pharmaco-epidemiological study Optimax II was to seek whether the pre-existence of a metabolic syndrome (MS defi ned by the NCEP-ATP III criteria impacts blood pressure (BP control in hypertensive patients receiving a fixed perindopril/indapamide combination therapy. The primary objective of the study was to compare in patients with and without MS the rate of BP control defined as a systolic BP ≤140 mmHg and a diastolic BP ≤90 mmHg. Patients were prospectively included and the follow-up lasted 6 months. The study population consisted of 24,069 hypertensive patients (56% men; mean age 62 ± 11 years; 18% diabetics; mean BP at inclusion 162 ± 13/93 ± 9 mmHg. MS was found in 30.4% of the patients (n = 7322: 35.2% women and 20.1% men. Three therapeutic subgroups were constituted: Group A, previously untreated, received the combination therapy as initial treatment; Group B, previously treated but with unsatisfactory results and/or treatment intolerance, had its previous treatment switched to perindopril/indapamide; and Group C, previously treated, with good treatment tolerance but uncontrolled BP, received the study treatment in adjunction to the previous one. The normalization rate was 70.3% in group A, 68.4% in Group B, and 64.1% in Group C (p < 0.0001. The pre-existence of MS did not show any significant influence on these rates since BP lowering was –22.7 ± 13.7 (SBP and –12.0 ± 10.0 mmHg (DBP in patients without MS and –22.6 ± 13.3 (SBP and −12.1 ± 9.7 (DBP in those with MS. The results of this study show a significant effect of perindopril/indapamide treatment on systolic BP lowering, whatever the treatment status: initiation, switch, or adjunctive therapy, and

  8. CT-guided injection of botulinic toxin for percutaneous therapy of piriformis muscle syndrome with preliminary MRI results about denervative process

    Energy Technology Data Exchange (ETDEWEB)

    Fanucci, E.; Masala, S.; Sodani, G.; Varrucciu, V.; Romagnoli, A.; Squillaci, E.; Simonetti, G. [Dept. of Radiology, Univ. of Rome (Italy)

    2001-12-01

    Piriformis muscle syndrome (PMS) is a cause of sciatica, leg or buttock pain and disability. The pain is usually increased by muscular contraction, palpation or prolonged sitting. The aim of our paper was to evaluate the feasibility of CT-guided percutaneous botulinic toxin (BTX) injection for the purpose of PMS treatment. Thirty patients suffering from PMS, suspected with clinical and electrophysiological criteria, after imaging examinations excluding other causes of sciatic pain, resulted positive at the lidocaine test and were treated by intramuscular injection of BTX type A under CT guidance. The follow-up (12 months) was performed with clinical examination in all cases and with MR 3 months after the procedure in 9 patients to evaluate the denervative process entity of the treated muscle. In 26 cases relief of symptoms was obtained after 5-7 days. In 4 patients an insufficient relief of pain justified a second percutaneous treatment which was clinically successful. No complications or side effects were recorded after BTX injection. The MR examination showed a signal intensity change of the treated muscle in 7 patients due to the denervative process of PM, whereas in the remaining 2 cases only an atrophy of the treated muscle was detected. Larger series are necessary to confirm these MRI preliminary results. The CT-guided BTX injection in the PMS is an emergent and feasible technique that obtains an excellent local therapeutic effect without risk of imprecise inoculation. (orig.)

  9. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects.

    Science.gov (United States)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás; Koskela, Antti; Tuukkanen, Juha; Ohlsson, Claes; Rozell, Björn; Eriksson, Maria

    2015-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7 weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant progerin splicing give hope to patients who are affected by HGPS. PMID:25877214

  10. Evaluation of an oral appliance in patients with mild to moderate obstructive sleep apnea syndrome intolerant to continuous positive airway pressure use: Preliminary results.

    Science.gov (United States)

    Cantore, S; Ballini, A; Farronato, D; Malcangi, G; Dipalma, G; Assandri, F; Garagiola, U; Inchingolo, F; De Vito, D; Cirulli, N

    2016-06-01

    Obstructive sleep apnea syndrome (OSAS) is a phenomenon of repeated, episodic reduction, or cessation of airflow (hypopnea/apnea) as a result of upper airways obstruction. First-line treatment in younger children is adenotonsillectomy, although other available treatment options in middle-aged adults include continuous positive airways pressure (CPAP) and airway adjuncts. Oral appliances (OA) are a viable treatment alternative in patients with OSAS.The objective of this study was to assess, in a 1-year follow-up study, an OA in OSAS patients. The participants were subjected to polysomnographic examination with a validated device (MicroMESAM). Eight participants were fitted with a Thornton Adjustable Positioner (TAP). The participants were asked to wear the test appliance for 7 nights, and in case of compliance, for 6 months. The selected patients record their usage of the appliance and any adverse effects in a treatment journal. The research focused on the following outcomes: sleep apnea (i.e. reduction in the apnea/hypopnea index) and the effect of oral appliances on daytime function.In conclusion, the results suggest that OA have a definite role in the treatment of snoring and sleep apnea. PMID:26684627

  11. CT-guided injection of botulinic toxin for percutaneous therapy of piriformis muscle syndrome with preliminary MRI results about denervative process

    International Nuclear Information System (INIS)

    Piriformis muscle syndrome (PMS) is a cause of sciatica, leg or buttock pain and disability. The pain is usually increased by muscular contraction, palpation or prolonged sitting. The aim of our paper was to evaluate the feasibility of CT-guided percutaneous botulinic toxin (BTX) injection for the purpose of PMS treatment. Thirty patients suffering from PMS, suspected with clinical and electrophysiological criteria, after imaging examinations excluding other causes of sciatic pain, resulted positive at the lidocaine test and were treated by intramuscular injection of BTX type A under CT guidance. The follow-up (12 months) was performed with clinical examination in all cases and with MR 3 months after the procedure in 9 patients to evaluate the denervative process entity of the treated muscle. In 26 cases relief of symptoms was obtained after 5-7 days. In 4 patients an insufficient relief of pain justified a second percutaneous treatment which was clinically successful. No complications or side effects were recorded after BTX injection. The MR examination showed a signal intensity change of the treated muscle in 7 patients due to the denervative process of PM, whereas in the remaining 2 cases only an atrophy of the treated muscle was detected. Larger series are necessary to confirm these MRI preliminary results. The CT-guided BTX injection in the PMS is an emergent and feasible technique that obtains an excellent local therapeutic effect without risk of imprecise inoculation. (orig.)

  12. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  13. Brachycephalic Syndrome.

    Science.gov (United States)

    Dupré, Gilles; Heidenreich, Dorothee

    2016-07-01

    Animals presenting with brachycephalic syndrome suffer from multilevel obstruction of the airways as well as secondary structural collapse. Stenotic nares, aberrant turbinates, nasopharyngeal collapse, soft palate elongation and hyperplasia, laryngeal collapse, and left bronchus collapse are being described as the most common associated anomalies. Rhinoplasty and palatoplasty as well as newer surgical techniques and postoperative care strategies have resulted in significant improvement of the prognosis even in middle-aged dogs. PMID:27012936

  14. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  15. [Paraneoplastic syndromes: a review].

    Science.gov (United States)

    Berardi, R; Grilli, G; Romagnoli, E; Saladino, T; Freddari, F; Tamburrano, T; Galizia, E; Carbonari, G; Mariani, C; Braconi, C; Pierantoni, C; Battelli, N; Scartozzi, M; Cascinu, S

    2005-01-01

    Modern oncology often obtains good results against earlier neoplasms, whilst it's still in difficulties against the advanced ones. The knowledge of paraneoplastic syndromes is crucial both to cure patients and to do an earlier diagnosis. When we recognize a paraneoplastic syndrome that comes before the clinic beginning of a neoplasm, perhaps we save a life. This review discusses all the main paraneoplastic syndromes, focusing mainly on their clinical aspect and reminding the most commonly associated cancers. PMID:16463565

  16. Optimal medical therapy for secondary prevention after an acute coronary syndrome: 18-month follow-up results at a tertiary teaching hospital in South Korea

    Directory of Open Access Journals (Sweden)

    Byeon HJ

    2016-02-01

    Full Text Available Hee Ja Byeon,1,* Young-Mo Yang,2,* Eun Joo Choi21Department of Pharmacy, Chosun University Hospital, 2Department of Pharmacy, College of Pharmacy, Chosun University, Gwangju, South Korea*These authors contributed equally to this workBackground: Acute coronary syndrome (ACS is a fatal cardiovascular disease caused by atherosclerotic plaque erosion or rupture and formation of coronary thrombus. The latest guidelines for ACS recommend the combined drug regimen, comprising aspirin, P2Y12 inhibitor, angiotensin-converting enzyme inhibitor or angiotensin II receptor blocker, β-blocker, and statin, at discharge after ACS treatment to reduce recurrent ischemic cardiovascular events. This study aimed to examine prescription patterns of secondary prevention drugs in Korean patients with ACS after hospital discharge, to access the appropriateness of secondary prevention drug therapy for ACS, and to evaluate whether to persistently use discharge medications for 18 months.Methods: This study was retrospectively conducted with the patients who were discharged from the tertiary hospital, located in South Korea, after ACS treatment between September 2009 and August 2013. Data were collected through electronic medical record.Results: Among 3,676 patients during the study period, 494 were selected based on inclusion and exclusion criteria. The regimen of aspirin + clopidogrel + β-blocker + angiotensin-converting enzyme inhibitor/angiotensin II receptor blocker + statin was prescribed to 374 (75.71% patients with ACS at discharge. Specifically, this regimen was used in 177 (69.69% unstable angina patients, 44 (70.97% non-ST-segment elevation myocardial infarction patients, and 153 (85.96% ST-segment elevation myocardial infarction patients. Compared with the number of ACS patients with all five guideline-recommended drugs at discharge, the number of ACS patients using them 12 (n=169, 34.21% and 18 (n=105, 21.26% months after discharge tended to be gradually

  17. Genetics Home Reference: Moebius syndrome

    Science.gov (United States)

    ... may also be risk factors for Moebius syndrome . Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII . These nerves, which emerge from ...

  18. Surgery is more cost-effective than splinting for carpal tunnel syndrome in the Netherlands: results of an economic evaluation alongside a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Adèr Herman J

    2006-11-01

    Full Text Available Abstract Background Carpal tunnel syndrome (CTS is a common disorder, often treated with surgery or wrist splinting. The objective of this economic evaluation alongside a randomized trial was to evaluate the cost-effectiveness of splinting and surgery for patients with CTS. Methods Patients at 13 neurological outpatient clinics with clinically and electrophysiologically confirmed idiopathic CTS were randomly allocated to splinting (n = 89 or surgery (n = 87. Clinical outcome measures included number of nights waking up due to symptoms, general improvement, severity of the main complaint, paraesthesia at night and during the day, and utility. The economic evaluation was performed from a societal perspective and involved all relevant costs. Results There were no differences in costs. The mean total costs per patient were in the surgery group EURO 2,126 compared to EURO 2,111 in the splint group. After 12 months, the success rate in the surgery group (92% was significantly higher than in the splint group (72%. The acceptability curve showed that at a relatively low ceiling ratio of EURO 2,500 per patient there is a 90% probability that surgery is cost-effective. Conclusion In the Netherlands, surgery is more cost-effective compared with splinting, and recommended as the preferred method of treatment for patients with CTS.

  19. Association between the metabolic syndrome, its individual components and unprovoked venous thromboembolism: results of a patient-level meta-analysis

    Science.gov (United States)

    Ageno, Walter; Di Minno, Matteo ND; Ay, Cihan; Ju Jang, Moon; Hansen, John-Bjarne; Steffen, Lyn M; Vaya', Amparo; Rattazzi, Marcello; Pabinger, Ingrid; Oh, Doyeun; Di Minno, Giovanni; Braekkan, Sigrid K.; Cushman, Mary; Bonet, Elena; Pauletto, Paolo; Squizzato, Alessandro; Dentali, Francesco

    2014-01-01

    Objective The metabolic syndrome (MetS) may contribute to the pathogenesis of venous thromboembolism (VTE), but this association requires additional investigation. Approach and Results We performed a patient-level meta-analysis of case-control and cohort studies that evaluated the role of MetS and risk of unprovoked VTE. For case-control studies, odds ratios (ORs) and 95% confidence intervals (CI) were calculated using logistic regression analysis to estimate the influence of individual variables on the risk of VTE; Chi squared tests for trend were used to investigate the impact of increasing number of components of MetS on the risk of VTE, and to explore the influence of abdominal obesity on this relationship. For cohort studies, hazard ratios (HRs) and 95% CI were calculated by using multivariable Cox regression analysis. Six case-control studies were included (908 cases with unprovoked VTE and 1794 controls): in multivariate analysis, MetS was independently associated with VTE (OR 1.91, 95% 1.57-2.33) and both MetS and abdominal obesity were better predictors of unprovoked VTE than obesity defined by the body mass index (BMI). Two prospective cohort studies were included (26.531 subjects, 289 unprovoked VTE events): age, obesity, and abdominal obesity, but not MetS were associated with VTE. Conclusions Case-control, but not prospective cohort studies support an association between MetS and VTE. Abdominal adiposity is a strong risk factor for VTE. PMID:25212233

  20. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  1. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  2. Modified TIPS for the treatment of Budd-Chiari syndrome with extensive occlusion of hepatic veins: its short-term results

    International Nuclear Information System (INIS)

    Objective: To investigate the short-term clinical efficacy of modified TIPS for the treatment of Budd-Chiari syndrome (BCS) with extensive occlusion of hepatic vein. Methods: Modified TIPS was carried out in seven patients of BCS with extensive occlusion of hepatic vein. Of the seven patients,acute development of BCS was seen in 2 and sub-acute or chronic onset of the disease in 5. Postoperative anticoagulation therapy was employed. Follow-up examination with color Doppler ultrasonography was conducted in all patients. The technical and clinical results were analyzed. Results: Technical success was achieved in all seven patients.A total of 12 stents, including 3 covered-stents and 9 self-expanding stents, were implanted between portal vein and inferior vena cava in seven patients. During a following-up period of 2-12 months, color Doppler ultrasonography showed that re-stenosis developed in one patient after 5 months and interventional procedure had to be carried out once more to place an additional stent. After modified TIPS treatment, the portal pressure fell from (40.7 ± 12.6) cmH2O to (17.2 ± 3.4) cmH2O. One month after the treatment the liver functions, the blood counting related to hypersplenism were significantly improved. And the clinical condition took a turn for the better. Conclusion: Carrying a satisfactory clinical short-term result, modified TIPS is an ideal and effective treatment for BCS accompanying extensive occlusion of hepatic vein. (authors)

  3. Carpal tunnel syndrome in hemodialysis patients as a dialysis-related amyloidosis manifestation – incidence, risk factors and results of surgical treatment

    Science.gov (United States)

    Kopeć, Jerzy; Gądek, Artur; Drożdż, Maciej; Miśkowiec, Krzysztof; Dutka, Julian; Sydor, Antoni; Chowaniec, Eve; Sułowicz, Władysław

    2011-01-01

    Summary Background Carpal tunnel syndrome (CTS) is the most common complication of dialysis-related amyloidosis (DRA) developing in patients on long-term dialysis therapy. The aim of this study was to evaluate the incidence of CTS and identify factors influencing the development of CTS in patients on maintenance hemodialysis, as well as results of its surgical treatment. Material/Methods The study included 386 patients, among whom CTS was diagnosed in 40 patients (10.4%) on the basis of signs and physical symptoms, as well as by nerve conduction. The group of patients with CTS and the group of patients without CTS were compared according to age (mean 54.50 vs. 56.48 years) and duration of dialysis treatment. Initial analysis of CTS incidence by sex, presence of anti-HCV antibodies, and location of arterio-venous fistula (AV fistula) was undertaken. Results Duration of dialysis treatment was the statistically significant risk factor for the development of CTS (16.05 vs. 4.51 years; p<0.0001). Among patients treated for a long period on hemodialysis (20–30 years), 100% required surgical release procedures, while 66.66% of those treated for 15–19 years, 42.1% of those treated for 10–14 years, and 1.6% of those treated for less than 10 years. CTS was diagnosed more often in anti-HCV-positive patients as compared with anti-HCV-negative patients (47.5 vs. 6.9%; p<0.0001). No significant differences were found when comparing CTS incidence by sex or between the development of CTS requiring surgical release intervention and location of the AV fistula. Conclusions Surgical release procedure of the carpal tunnel gave good treatment results in patients with CTS. PMID:21873947

  4. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

    Science.gov (United States)

    Munns, Craig F; Fahiminiya, Somayyeh; Poudel, Nabin; Munteanu, Maria Cristina; Majewski, Jacek; Sillence, David O; Metcalf, Jordan P; Biggin, Andrew; Glorieux, Francis; Fassier, François; Rauch, Frank; Hinsdale, Myron E

    2015-06-01

    Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function, morphogen gradient formation, and co-receptor activity. Proteoglycan assembly initiates with a xylose monosaccharide covalently attached by either xylosyltransferase I or II. Three individuals from two families were found that exhibited similar phenotypes. The index case subjects were two brothers, individuals 1 and 2, who presented with osteoporosis, cataracts, sensorineural hearing loss, and mild learning defects. Whole exome sequence analyses showed that both individuals had a homozygous c.692dup mutation (GenBank: NM_022167.3) in the xylosyltransferase II locus (XYLT2) (MIM: 608125), causing reduced XYLT2 mRNA and low circulating xylosyltransferase (XylT) activity. In an unrelated boy (individual 3) from the second family, we noted low serum XylT activity. Sanger sequencing of XYLT2 in this individual revealed a c.520del mutation in exon 2 that resulted in a frameshift and premature stop codon (p.Ala174Profs(∗)35). Fibroblasts from individuals 1 and 2 showed a range of defects including reduced XylT activity, GAG incorporation of (35)SO4, and heparan sulfate proteoglycan assembly. These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. This phenotype is different from what has been reported in individuals with other linker enzyme deficiencies. These studies illustrate that the cells of the lens, retina, heart muscle, inner ear, and bone are dependent on XylT2 for proteoglycan assembly in humans. PMID:26027496

  5. HERLYN - WERNER - WUNDERLICH SYNDROME (HWW SYNDROME): A CASE REPORT

    OpenAIRE

    Pallavi S.; Ganpat; Gaurav

    2015-01-01

    Congenital anomalies of the mullerian duct system can result in various urogenital anomalies and, Herlyn Werner Wunderlich syndrome (HWW syndrome) is one such rare anomaly . This syndrome is characterized by uterus didelphys with blind hemi vagina and ipsilateral renal agenesis . 1 it is also known as OHVIRA (Obstructed Hemi vagina with ...

  6. Retrievable stent filter placement for the treatment of budd-chiari syndrome complicated with inferior vena cava thrombosis: its mid-term results

    International Nuclear Information System (INIS)

    Objective: To investigate the mid-term efficacy of retrievable stent filter placement for the treatment of Budd-Chiari syndrome (BCS) complicated with inferior vena cava (IVC) thrombosis. Methods: Eight patients of BCS complicated with IVC thrombosis were enrolled in this study. IVC thrombosis included segmental occlusion (n = 2) and membranous occlusion (n = 6). In all patients, the IVC was re-canalized by using blunt wire after anticoagulation and thrombolytic therapy, then, the re-canalized site was expanded with small balloon, which was followed by the placement of retrievable stent filter, and, finally, IVC size was dilated with larger balloon. Anticoagulation and thrombolytic therapy was given after the procedure. And all the retrievable stent filters were withdrawn from the IVC through internal jugular vein when the thrombus in IVC was dissolved. In patients with segmental occlusion of IVC, in addition to the placement of retrievable stent filter a 'Z' type vessel stent was also placed during the same interventional session. Follow-up examination with color Doppler sonography was conducted in all patients. Results: Technical success was achieved in all 8 patients without pulmonary infarction or other complications both during and after the operation. Immediately after the thrombus completely disappeared, the retrievable stent filter was successfully taken out in all patients. During a following-up period of 3-12 months, color Doppler sonographs showed that the IVC remained patent in 6 patients and had a recurrence of stenosis in 2 patients. Conclusion: Placement of retrievable stent filter is a safe and effective treatment for BCS complicated with IVC thrombosis. (authors)

  7. Validation of the post sleep questionnaire for assessing subjects with restless legs syndrome: results from two double-blind, multicenter, placebo-controlled clinical trials

    Directory of Open Access Journals (Sweden)

    Bharmal Murtuza

    2011-04-01

    Full Text Available Abstract Background Because of the subjective nature of Restless Legs Syndrome (RLS symptoms and the impact of these symptoms on sleep, patient-reported outcomes (PROs play a prominent role as study endpoints in clinical trials investigating RLS treatments. The objective of this study was to validate a new measure, the Post Sleep Questionnaire (PSQ, to assess sleep dysfunction in subjects with moderate-to-severe RLS symptoms. Methods Pooled data were analyzed from two 12-week, randomized, placebo-controlled trials of gabapentin enacarbil (N = 540. At baseline and Week 12, subjects completed the PSQ and other validated health surveys: IRLS Rating Scale, Clinical Global Impression of Improvement (CGI-I, Profile of Mood States (POMS, Medical Outcomes Study Scale-Sleep (MOS-Sleep, and RLS-Quality of Life (RLSQoL. Pooled data were used post hoc to examine the convergent, divergent, known-group validity and the responsiveness of the PSQ. Results Convergent validity was demonstrated by significant correlations between baseline PSQ items and total scores of IRLS, POMS, RLSQoL, and the MOS-Sleep Scale (p ≤ 0.007 each. Divergent validity was demonstrated through the lack of significant correlations between PSQ items and demographic characteristics. Correlations (p Conclusions Although these analyses were potentially limited by the use of clinical trial data and not prospective data from a study conducted solely for validation purposes, the PSQ demonstrated robust psychometric properties and is a valid instrument for assessing sleep and sleep improvements in subjects with moderate-to-severe RLS symptoms. Trial Registration This study analyzed data from two registered trials, NCT00298623 and NCT00365352.

  8. Optimal Waist Circumference Cut-Off Point for Multiple Risk Factor Aggregation: Results from the Maracaibo City Metabolic Syndrome Prevalence Study

    Directory of Open Access Journals (Sweden)

    Valmore Bermúdez

    2014-01-01

    Full Text Available Context and Objective. The purpose of this study was to determine optimal waist circumference (WC cut-off values for the detection of multiple risk factor aggregation in individuals from Maracaibo, Venezuela. Participants and Methods. A total of 1,902 adult individuals of both genders belonging to MMSPS were included. Complete physical, laboratory, and anthropometric examination were done to evaluate Metabolic Syndrome (MS components and insulin resistance. ROC curves were plotted for risk factor aggregation in order to assess WC cut-off point. Logistic regression models were constructed to assess risk factors associated with the WC. Results. There were 52.2% females and 47.8% males, with WC of 90.7±13.7 cm and 98.2±15.9 cm, respectively. ROC curves exhibited a WC cut-off point for women of 90.25 cm (68.4% sensitivity, 65.8% specificity and 95.15 cm (71.1% sensitivity, 67.4% specificity for men. HOMA2-IR and high blood pressure were associated with a WC over these cut-off points, as well as 2.5-fold risk increase for multiple risk factor aggregation (OR 2.56; CI 95%: 2.05–3.20; P<0.01. Conclusions. These population-specific WC cut-offs are readily applicable tools for detection of risk factor aggregation. Insulin resistance is closely associated with this definition of abdominal obesity, which may serve as a surrogate for its assessment.

  9. Heart rate at discharge and long-term prognosis following percutaneous coronary intervention in stable and acute coronary syndromesresults from the BASKET PROVE trial

    DEFF Research Database (Denmark)

    Jensen, Magnus Thorsten; Kaiser, Christoph; Sandsten, Karl Erik; Alber, Hannes; Wanitschek, Maria; Iversen, Allan; Jensen, Jan Skov; Pedersen, Sune; Soerensen, Rikke; Rickli, Hans; Zurek, Marzena; Fahrni, Gregor; Bertel, Osmund; De Servi, Stefano; Erne, Paul; Pfisterer, Matthias; Galatius, Søren; investigators, for the BASKET-PROVE

    2013-01-01

    Elevated heart rate (HR) is associated with mortality in a number of heart diseases. We examined the long-term prognostic significance of HR at discharge in a contemporary population of patients with stable angina (SAP), non-ST-segment elevation acute coronary syndromes (NSTE-ACS), and ST...

  10. Cardiovascular Risk Factors (Diabetes, Hypertension, Hypercholesterolemia and Metabolic Syndrome) in Older People with Intellectual Disability: Results of the HA-ID Study

    Science.gov (United States)

    de Winter, C. F.; Bastiaanse, L. P.; Hilgenkamp, T. I. M.; Evenhuis, H. M.; Echteld, M. A.

    2012-01-01

    Hypertension, diabetes, hypercholesterolemia and the metabolic syndrome are important risk factors for cardiovascular disease (CVD). In older people with intellectual disability (ID), CVD is a substantial morbidity risk. The aims of the present study, which was part of the Healthy Ageing in Intellectual Disability (HA-ID) study, were (1) to…

  11. High absolute risks and predictors of venous and arterial thromboembolic events in patients with nephrotic syndrome: results from a large retrospective cohort study.

    NARCIS (Netherlands)

    Mahmoodi, B.K.; Kate, M.K. ten; Waanders, F.; Veeger, N.J.; Brouwer, J.L.; Vogt, L.; Navis, G.; Meer, J.W.M. van der

    2008-01-01

    BACKGROUND: No data are available on the absolute risk of either venous thromboembolism (VTE) or arterial thromboembolism (ATE) in patients with nephrotic syndrome. Reported risks are based on multiple case reports and small studies with mostly short-term follow-up. We assessed the absolute risk of

  12. Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome: A Review of the Literature and Preliminary Results from a Functional Magnetic Resonance Imaging Study of Language

    Science.gov (United States)

    Steinman, Kyle; Ross, Judith; Lai, Song; Reiss, Allan; Hoeft, Fumiko

    2009-01-01

    Klinefelter (47,XXY) syndrome (KS), the most common form of sex-chromosomal aneuploidy, is characterized by physical, endocrinologic, and reproductive abnormalities. Individuals with KS also exhibit a cognitive/behavioral phenotype characterized by language and language-based learning disabilities and executive and attentional dysfunction in the…

  13. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  14. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  15. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  16. Asperger syndrome

    Science.gov (United States)

    Asperger syndrome is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat behaviors, and clumsiness. Asperger syndrome is a part of the larger developmental disorder ...

  17. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  18. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  19. Proteus Syndrome

    Science.gov (United States)

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Definition Common Signs Diagnostic Criteria (I have ... NIH to go with this criteria) Glossary Videos Proteus Syndrome is a condition which involves atypical growth ...

  20. Learning about Marfan Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  1. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  2. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  3. Alagille syndrome.

    OpenAIRE

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac ma...

  4. Dumping Syndrome

    Science.gov (United States)

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  5. Unique challenges for appropriate management of a 16-year-old girl with superior mesenteric artery syndrome as a result of anorexia nervosa: a case report

    Directory of Open Access Journals (Sweden)

    Verhoef Philip A

    2009-11-01

    Full Text Available Abstract Introduction Nausea and vomiting in an adolescent, though common presenting symptoms, often pose a diagnostic and therapeutic challenge to the physician. When the diagnosis involves both medical and psychiatric components, management can be complex, especially in the current healthcare system in the United States. To the best of our knowledge, there have been no previous publications detailing successful management of a patient with anorexia nervosa and superior mesenteric artery syndrome. Case presentation We report the case of a 16-year-old Caucasian girl who presented to our emergency department with nausea, abdominal pain, diminished appetite and vomiting. Her history and examination were notable for a 15 kg weight loss and diffuse abdominal tenderness. A barium swallow X-ray with small bowel follow-through and computed tomography scan demonstrated remarkable duodenal narrowing between the superior mesenteric artery and the aorta, consistent with superior mesenteric artery syndrome. Initial management focused on relieving the obstruction and supporting the nutritional needs of the patient. Further history confirmed a diagnosis of anorexia nervosa, requiring intensive psychiatric and medical management, and necessitating a multifaceted approach to patient care involving social work, multiple primary care physicians and subspecialists, insurance company representatives, and the patient's immediate family. Conclusion This case illustrates important points regarding the pathogenesis of superior mesenteric artery syndrome in the setting of anorexia, and it highlights the complexities that arise when managing an adolescent with both medical and psychiatric needs, as well as outlining a viable solution. While superior mesenteric artery syndrome is an uncommon cause of small bowel obstruction, the general pediatrician and child psychiatrist should be aware of this complication of anorexia nervosa.

  6. Endoscopic Bursectomy and Iliotibial Tract Release as a Treatment for Refractory Greater Trochanteric Pain Syndrome: A New Endoscopic Approach With Early Results

    OpenAIRE

    Govaert, Louise H.M.; van Dijk, C. Niek; Zeegers, Adelgunde V.C.M.; Albers, Gerardus H.R.

    2012-01-01

    Greater trochanteric pain syndrome (GTPS) is associated with excessive tension between the iliotibial band (ITB) and the greater trochanter. Several endoscopic procedures have been reported, but in most cases the endoscopic approach only consists of a bursectomy. The ITB and fascia lata act as a lateral tension band to resist tensile strains on the concave aspect of the femur and are often implicated as the source of GTPS. We therefore believe that the ITB must be addressed. We describe an en...

  7. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  8. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  9. Endoscopic bursectomy and iliotibial tract release as a treatment for refractory greater trochanteric pain syndrome: a new endoscopic approach with early results.

    Science.gov (United States)

    Govaert, Louise H M; van Dijk, C Niek; Zeegers, Adelgunde V C M; Albers, Gerardus H R

    2012-12-01

    Greater trochanteric pain syndrome (GTPS) is associated with excessive tension between the iliotibial band (ITB) and the greater trochanter. Several endoscopic procedures have been reported, but in most cases the endoscopic approach only consists of a bursectomy. The ITB and fascia lata act as a lateral tension band to resist tensile strains on the concave aspect of the femur and are often implicated as the source of GTPS. We therefore believe that the ITB must be addressed. We describe an endoscopic technique to release the ITB and remove the bursa and conclude that endoscopic bursectomy with cross incision of the ITB is a safe approach to treat patients with refractory GTPS. PMID:23766989

  10. Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.

    Science.gov (United States)

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2015-02-01

    Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting in greater cumulative years of life lost. Improved understanding of the underpinnings of the genetic pathways underlying these syndromes and the rapid evolution of targeted therapies in general have made it possible to develop therapeutic options for these patients and other genetic cancer syndromes. Targeted therapies especially antiangiogenics and inhibitors of the PIK3CA/AKT/mTOR signaling pathway have shown activity in selected group of patients affected by these syndromes or in patients harboring specific sporadic mutations which are otherwise characteristic of these syndromes. Unfortunately due to the rare nature, patients with these syndromes are not the focus of clinical trials and unique results seen in these patients can easily go unnoticed. Most of the data suggesting benefits of targeted therapies are either case reports or small case series. Thus, a literature review was indicated. In this review we explore the use of molecularly targeted therapy options in Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. PMID:25725225

  11. Mosaicism in Stickler syndrome

    OpenAIRE

    Stevenson, David A.; Vanzo, Rena; Damjanovich, Kristy; Hanson, Heather; Muntz, Harlan; Hoffman, Robert O.; Bayrak-Toydemir, Pinar

    2012-01-01

    Stickler syndrome is a heterogeneous condition due to mutations in COL2A1, COL11A1, COL11A2, and COL9A1. To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome. We report on a family with two clinically affected sibs with Stickler syndrome who have clinically unaffected parents. Both sibs have a novel heterozygous mutation in exon 26 of COL2A1 (c.1525delT); this results in a premature termination codon downstream of the mutation sit...

  12. Study on Correlation between Thoracic Obstruction Syndrome and Result of Coronary Angiography%胸痹辨证分型与冠状动脉造影结果相关性分析

    Institute of Scientific and Technical Information of China (English)

    江磊磊; 刘福明; 梅晓云

    2012-01-01

    Objective: To study the relation between thoracic obstruction syndrome and result of coronary angiography, so that the objective proof and treatment of thoracic obstruction diagnosis can be offered. Methods: Retrospective study was carried on 844 thoracic obstruction patients with coronary angiography results,and the relation between thoracic obstruction syndrome and results of coronary angiography was studied. Results:Statistical analysis showed that there was obvious difference in obstruction numbers (P =0.001 )and obstruction degree( P =0. 003 ) in different syndromes. The max obstruction proportion was phlegm and blood-stasis group among the three branches obstruction, subsequent proportion was Qi asthenia and blood-stasis group. The max obstruction proportion was also phlegm and blood stasis group in positive cases with coronary angiography .subsequent proportion was Qi asthenia and phlegm-stasis group. Conclusion: The most dangerous syndrome of thoracic obstruction is phlegm and blood stasis,and Qi asthenia and blood-stasis and Qi asthenia and phlegm-stasis are less dangerous syndromes.%目的:探讨胸痹证型与冠状动脉造影结果的关系,为胸痹的诊断及治疗提供客观依据.方法:对心内科确诊为胸痹且行冠状动脉造影的844例患者进行回顾性调查,观察胸痹各证型与冠状动脉造影结果的关系.结果:经统计学检验,不同证型在阻滞支数上有极显著性差异(P=0.001),在阻塞程度上有极显著性差异(P=0.003).3支阻塞比例最高者为痰瘀互结组,其次为气虚血瘀组;冠脉造影阳性者中,比例最高者亦为痰瘀互结组,其次为气虚痰瘀组.结论:痰瘀互结证为胸痹最危险证型,其次为气虚血瘀和气虚痰瘀证.

  13. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  14. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  15. Sweet Syndrome

    OpenAIRE

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil

    1996-01-01

    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  16. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  17. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  18. Velocardiofacial syndrome.

    OpenAIRE

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and ...

  19. Surgical fasciectomy of the trapezius muscle combined with neurolysis of the Spinal accessory nerve; results and long-term follow-up in 30 consecutive cases of refractory chronic whiplash syndrome

    Directory of Open Access Journals (Sweden)

    Freeman Michael

    2010-04-01

    Full Text Available Abstract Background Chronic problems from whiplash trauma generally include headache, pain and neck stiffness that may prove refractory to conservative treatment modalities. As has previously been reported, such afflicted patients may experience significant temporary relief with injections of local anesthetic to painful trigger points in muscles of the shoulder and neck, or lasting symptomatic improvement through surgical excision of myofascial trigger points. In a subset of patients who present with chronic whiplash syndrome, the clinical findings suggest an affliction of the spinal accessory nerve (CN XI, SAN by entrapment under the fascia of the trapezius muscle. The present study was undertaken to assess the effectiveness of SAN neurolysis in chronic whiplash syndrome. Methods A standardized questionnaire and a linear visual-analogue scale graded 0-10 was used to assess disability related to five symptoms (pain, headache, insomnia, weakness, and stiffness before, and one year after surgery in a series of thirty consecutive patients. Results The preoperative duration of symptoms ranged from seven months to 13 years. The following changes in disability scores were documented one year after surgery: Overall pain decreased from 9.5 +/- 0.9 to 3.2 +/- 2.6 (p Conclusions Entrapment of the spinal accessory nerve and/or chronic compartment syndrome of the trapezius muscle may cause chronic debilitating pain after whiplash trauma, without radiological or electrodiagnostic evidence of injury. In such cases, surgical treatment may provide lasting relief.

  20. Sheehan syndrome

    Science.gov (United States)

    Postpartum hypopituitarism; Postpartum pituitary insufficiency; Hypopituitarism Syndrome ... Malee MP. Pituitary and adrenal disorders in pregnancy. In: Gabbe ... Problem Pregnancies . 6th ed. Philadelphia, PA: Elsevier Mosby; ...

  1. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  2. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  3. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  4. Proteus Syndrome Foundation

    Science.gov (United States)

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a 501c3 ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  5. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  6. Celiac Artery Compression Syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Muqeetadnan

    2013-01-01

    Full Text Available Celiac artery compression syndrome is a rare disorder characterized by episodic abdominal pain and weight loss. It is the result of external compression of celiac artery by the median arcuate ligament. We present a case of celiac artery compression syndrome in a 57-year-old male with severe postprandial abdominal pain and 30-pound weight loss. The patient eventually responded well to surgical division of the median arcuate ligament by laparoscopy.

  7. Postthrombotic Syndrome: Surgical Possibilities

    OpenAIRE

    Khanna, Ajay K; Shivanshu Singh

    2011-01-01

    Postthrombotic syndrome (PTS) is a late outcome of deep vein thrombosis characterized by cramping pain, swelling, hyperpigmentation, eczema, lipodermatosclerosis, and ulceration in the leg due to increased venous outflow resistance and reflux venous flow. Newer surgical and endovascular interventions have a promising result in the management of postthrombotic syndrome. Early surgical or endovascular interventions in appropriately selected patients may decrease the incidence of recurrent ulcer...

  8. Drug-Induced QT Prolongation as a Result of an Escitalopram Overdose in a Patient with Previously Undiagnosed Congenital Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    Paul Singh

    2014-01-01

    Full Text Available We present a case of drug-induced QT prolongation caused by an escitalopram overdose in a patient with previously undiagnosed congenital LQTS. A 15-year-old Caucasian female presented following a suicide attempt via an escitalopram overdose. The patient was found to have a prolonged QT interval with episodes of torsades de pointes. The patient was admitted to the telemetry unit and treated. Despite the resolution of the torsades de pointes, she continued to demonstrate a persistently prolonged QT interval. She was seen by the cardiology service and diagnosed with congenital long QT syndrome. This case illustrates the potential for an escitalopram overdose to cause an acute QT prolongation in a patient with congenital LQTS and suggests the importance of a screening electrocardiogram prior to the initiation of SSRIs, especially in patients at high risk for QT prolongation.

  9. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  10. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  11. Tourette Syndrome.

    Science.gov (United States)

    Look, Kathy

    Tourette Syndrome has a history of being misdiagnosed or undiagnosed due to its unusual and complex symptoms. This paper describes: the symptoms of Tourette Syndrome; its etiology; age of onset; therapeutic methods, such as drug therapy, psychotherapy, diet control, and hypnosis; educational implications; and employment prospects. Several…

  12. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep;

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  13. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  14. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  15. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  16. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini

    2004-10-01

    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  17. Bloom's Syndrome

    Science.gov (United States)

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  18. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    , 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...

  19. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander; Jørgensen, Niels; Skakkebaek, Niels E; Juul, Anders

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure with...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...... the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the...

  20. PIRIFORMIS SYNDROME: A REVIEW

    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  1. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  2. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  3. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. PMID:25983069

  4. Horner's syndrome and thyroid neoplasms

    OpenAIRE

    Leuchter, Igor; Becker, Minerva; Mickel, Robert; Dulguerov, Pavel

    2002-01-01

    Although thyroid goiter is a common condition, it rarely results in Horner's syndrome. We report a case of a patient with an intrathoracic multinodular goiter complicated by Horner's syndrome. Benign thyroid disease was confirmed pathologically, and the patient's symptoms improved after surgery. In the literature, the major cause of Horner's syndrome is neoplasia, with malignant lesions being twice as frequent as benign tumors. An extensive review of the literature demonstrates a different re...

  5. Psychosomatic syndromes and anorexia nervosa

    Directory of Open Access Journals (Sweden)

    Abbate-Daga Giovanni

    2013-01-01

    Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

  6. Aging and Intellectual Disability: Insights from Mouse Models of Down Syndrome

    Science.gov (United States)

    Ruparelia, Aarti; Pearn, Matthew L.; Mobley, William C.

    2013-01-01

    Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset…

  7. DRESS syndrome in ophthalmic patients.

    Science.gov (United States)

    Sousa, Jacqueline Martins de; Nascimento, Heloisa; Belfort, Rubens

    2016-01-01

    Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and potentially fatal adverse drug reaction associated with skin rash, fever, eosinophilia, and multiple organ injury. A number of pharmacological agents are known to cause DRESS syndrome such as allopurinol, anticonvulsants, vancomycin, trimethoprime-sulfamethoxazole, and pyrimethamine-sulfadiazine. Here, we describe two patients who developed DRESS syndrome during ocular treatment. The first case was being treated for late postoperative endophthalmitis with topical antibiotics, intravenous cephalothin, meropenem, and intravitreal injection of vancomycin and ceftazidime before symptoms developed. We were unable to identify the causal drug owing to the large number of medications concurrently administered. The second case presented with DRESS syndrome symptoms during ocular toxoplasmosis treatment. In this case, a clearer association with pyrimethamine-sulfadiazine was observed. As a result of the regular prescription of pharmacological agents associated with DRESS syndrome, ophthalmologists should be aware of the potentially serious complications of DRESS syndrome. PMID:27463633

  8. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

    Science.gov (United States)

    Jelena, Brezo; Christina, Lam; Eric, Vilain; Fabiola, Quintero-Rivera

    2014-06-01

    Waardenburg syndrome (WS) is a neurocristopathy characterized by pigmentation abnormalities of the skin, hair, and iris, as well as sensorineural hearing loss. Contiguous gene deletions encompassing SOX10 are rare, which limits conclusions about genotype-phenotype correlation regarding patient prognosis and management. This study adds to the existing body of knowledge by characterizing a 2.4 Mb deletion [arr[hg19] 22q12.3-q13.1 (36467502-38878207)x1] encompassing SOX10 and 53 additional RefSeq genes in a 15-year-old female with atypical WS. The patient presented with developmental delay, profound bilateral sensorineural hearing loss, heterochromia iridis, hypotonia, and bilateral finger contractures. Published genomic and phenotypic profiles of patients with SOX10-encompassing deletions point toward several plausible candidate gene that could account for the considerable clinical heterogeneity. These studies suggest the existence of modifiers among the co-deleted, dosage-sensitive genes (e.g., MYH9) and among genes whose effect may depend on the unmasking of recessive mutations (e.g., PLA2G6). Finally, we highlight evidence illustrating extensive interconnectivity of SOX10-hypothesizing that haploinsufficiency of SOX10 may "unmask" subtler effects on expression or epistasis associated with variants in SOX10 targets (e.g., DHH), in its partners (e.g., PAX3, EGR2), and in genes with functional overlap (e.g., SOX8, SOX9). PMID:24715709

  9. Asperger Syndrome in children

    Directory of Open Access Journals (Sweden)

    Ioannis Koutelekos

    2009-02-01

    Full Text Available The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992 and afterwards in the DSM-IV (American Psychiatric Organization, 1994. The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim of this particular article that constitutes a case study is the descriptive approach of the Asperger’s Syndrome, through the study of the child behavior.The methodology that was followed in the present case-study was based on inquiring studies and reviews that were drawn from international data bases that correspond to this particular case study of syndrome Asperger in children.Results: The individuals with Asperger’ s syndrome, as well as the case study, tend to experience really big difficulties in elementary social behaviors, as failure in the development and creation of friendly relations or in the search of entertainment activities with others. Moreover, they face difficulties in the comprehension of non verbal communication (body language and the other’s expressions, the body gestures or even the eye contact.Conclusions: The precocious recognition of Asperger’s syndrome is imperative, with final objective the continuous briefing and sensitization of all health professionals, as well as the wider public, toward this syndrome. The earlier a parent foreruns for the diagnosis, the bigger probabilities they stand for a potential functional re-establishment of the syndrome.

  10. Cognitive and behavioral heterogeneity in genetic syndromes

    Directory of Open Access Journals (Sweden)

    Luiz F.L. Pegoraro

    2014-04-01

    Full Text Available OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10, Prader-Willi syndrome (n = 11, and Fragile X syndrome (n = 13 from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III. Afterwards, a full-scale intelligence quotient (IQ, verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns.

  11. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  12. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  13. Piriformis syndrome

    Science.gov (United States)

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  14. Rett syndrome

    Science.gov (United States)

    An infant with Rett syndrome usually has normal development for the first 6 to 18 months. Symptoms range from ... of social engagement Ongoing, severe constipation and gastroesophageal reflux (GERD ) Poor circulation that can lead to cold ...

  15. Gardner Syndrome

    Science.gov (United States)

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  16. Piriformis Syndrome

    Science.gov (United States)

    ... syndrome occurs when this muscle presses on your sciatic nerve (the nerve that goes from your spinal cord ... cause the piriformis muscle to press against the sciatic nerve, such as sitting, walking up stairs or running. ...

  17. Marfan Syndrome

    Science.gov (United States)

    ... caved-in look. He also wore glasses for myopia (say: my-OH-pee-uh), or nearsightedness, which ... syndrome, this "glue" is weaker than normal. This causes changes in many systems of the body, but ...

  18. Aase syndrome

    Science.gov (United States)

    ... a provider who has experience treating anemias. A bone marrow transplant may be necessary if other treatment fails. ... counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

  19. Hunter syndrome

    Science.gov (United States)

    ... to your health care provider for more information. Bone marrow transplant has been tried for the early-onset form, ... to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier ...

  20. Hurler syndrome

    Science.gov (United States)

    ... to your health care provider for more information. Bone marrow transplant has been used in several people with this ... Call your provider if: You have a family history of Hurler syndrome and are considering having children ...

  1. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  2. Turcot Syndrome

    Science.gov (United States)

    ... procedure done in conjunction with in-vitro fertilization (IVF). It allows people who carry a specific known ... screening? If you are concerned about your family history and think your family may have Turcot syndrome, ...

  3. Levator Syndrome

    Science.gov (United States)

    ... 2 Diabetes, Heart Disease a Dangerous Combo Are 'Workaholics' Prone to OCD, Anxiety? ALL NEWS > Resources First ... are variations of levator syndrome. The muscle spasm causes pain that typically is not related to defecation. ...

  4. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  5. Goodpasture syndrome

    Science.gov (United States)

    ... glomerulonephritis with pulmonary hemorrhage; Pulmonary renal syndrome; Glomerulonephritis - pulmonary hemorrhage ... when urinating Nausea and vomiting Pale skin Swelling (edema) in any area of the body, especially in the legs

  6. Tourette Syndrome

    Science.gov (United States)

    ... methylphenidate and clonidine in children with ADHD and tics. Developing New Treatments for Tourette Syndrome: Clinical and Basic Science Dialogue Publicaciones en Español Síndrome de Tourette Prepared ...

  7. Alport Syndrome

    Science.gov (United States)

    ... syndrome diagnosed? Your healthcare provider will have to watch your signs, symptoms, and look at your family ... 05/2016 - 10:00am Philadelphia, PA Kidney Camp Sun, 07/17/2016 - 6:00pm Ingleside, IL Register ...

  8. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie;

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart...

  9. [DIDMOAD syndrome].

    Science.gov (United States)

    Alicanoğlu, R; Canbakan, B; Yildiz, N; Arikan, E; Kundur, H; Bahtiyar, K; Sayali, E

    1994-01-01

    The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed. PMID:8023526

  10. Heyde's syndrome

    Directory of Open Access Journals (Sweden)

    Perišić Nenad

    2006-01-01

    Full Text Available Background: Heyde's syndrome implies an association of calcified aortic stenosis with the high gradient of pressure and angiodysplasic bleeding from the digestive tract. It has been proven that in patients with this syndrome, acquired form of von Willebrand type II A develops. Replacing of aortic valves by artificial ones brings about the spontaneous retreat of coagulation disorder, and the stoppage of the digestive tract bleeding. Case report. We reported two patients with the Heyde's syndrome. In one of the patients the aortic valves were replaced by biologic valves, after which the digestive tract bleeding stopped, while the second patient was treated conservatively due to a high operation risk. Conclusion. Patients with Heyde's syndrome are a complex multidisciplinary problem, thus their adequate treatment requires a team work in order to provide the most rational type of therapy for each patient separately.

  11. Reifenstein syndrome

    Science.gov (United States)

    ... male sex hormones (androgens). Testosterone is a male sex hormone. This disorder is a type of androgen insufficiency syndrome. ... Donohoue PA. Disorders of sex development. In: Kliegman RM, Stanton ... J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics . ...

  12. HELLP syndrome

    Science.gov (United States)

    ... out of 1,000 pregnancies. In women with preeclampsia or eclampsia , the condition develops in 10 to ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

  13. 河源地区孕中期唐氏综合症血清筛查结果分析%Analysis of serum screening results of Down's syndrome in the second trimester of pregnancy in Heyuan area

    Institute of Scientific and Technical Information of China (English)

    刘运华

    2015-01-01

    Objective To explore the risk status of pregnant women suffering from Down's syndrome in heyuan area, and eval-uate the clinical value of Down's syndrome screening in mid pregnancy in prevention of birth defects. Methods The concentra-tions of serum AFP (AFP), Free human chorionic gonadotropin (Free-beta HCG) and Free estriol (uE3) in 5297 cases of mid preg-nancy woman (14-20+6weeks) were detected by time-resolved method, and risk assessment of fetuses were done by production screen professional software combined with the gestational age, age and weight. Results Among 5297 cases of pregnant women, 362 cases were at high risk of Down's syndrome, 24 cases were at high risk of neural tube defects (NTD) and 23 cases were high risk population for trisomy 18 syndrome, the positive rate of them were 6.83%, 0.45%, and 0.43% respectively. The total positive rate of pregnant women whose age were over 35 years was higher than those below 35 years (P<0.05). Conclusions Mid pregnan-cy serological"triple screening"(AFP+Free-beta HCG+uE3) for fetal Down's syndrome is a non-invasive method, and screen-ing for Down's syndrome can prevent birth defects and improve the birth population quality.%目的:探索河源地区孕妇唐氏综合症的风险状况,分析孕中期唐氏综合症筛查在预防出生缺陷中的临床价值。方法用时间分辨法检测5297例孕中期(14~20+6)母体血清的甲胎蛋白(AFP),游离绒毛膜促性腺激素(Free-βHCG)和游离雌三醇(uE3)浓度,结合孕周、年龄和体重,运用专业的产筛软件进行胎儿风险评估。结果筛查的5297例孕妇中,唐氏综合症高危362例,阳性率为6.83%;神经管缺陷(NTD)高危24例,阳性率为0.45%;18-三体综合症高危23例,阳性率为0.43%;35岁以上者总阳性率高于35岁以下者(P<0.05)。结论孕中期血清学“三联法”(AFP+Free-βHCG+uE3)筛查胎儿唐氏综合症是一种无创性手段,普遍开展唐氏综合症筛查可预防

  14. Kindler syndrome

    OpenAIRE

    Kaviarasan P; Prasad P; Shradda; Viswanathan P

    2005-01-01

    Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderm...

  15. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  16. Pendred's syndrome

    International Nuclear Information System (INIS)

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  17. The Down Syndrome Advantage: Fact or Fiction?

    Science.gov (United States)

    Corrice, April M.; Glidden, Laraine Masters

    2009-01-01

    The "Down syndrome advantage" is the popular conception that children with Down syndrome are easier to rear than children with other developmental disabilities. We assessed whether mothers of children with developmental disabilities would demonstrate a consistent Down syndrome advantage as their children aged from 12 to 18 years. Results did not…

  18. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  19. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  20. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  1. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    OpenAIRE

    Yeliz Bilir; Erkan Gokce; Banu Ozturk; Faik Alev Deresoy; Ruken Yuksekkaya; Emel Yaman

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity...

  2. POST PANCREATITIS SMA SYNDROME : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ritesh M

    2015-05-01

    Full Text Available Superior mesenteric artery (SMA syndrome is a rare acquired disorder in which acute angulation of SMA causes compression of the third part of the duodenum between the SMA and the aorta, leading to obstruction. Loss of fatty tissue as a result of a variet y of debilitating conditions is believed to be the etiologic factor causing the acute angulation. Conditions like increased spinal lordosis, application of a body cast, short ligament of Treitz or unusually low origin of SMA may also precipitate this syndr ome. The diagnosis of SMA syndrome is based on clinical symptoms and radiologic evidence of obstruction. SMA syndrome has been described after rapid or severe weight loss in conditions such as cancer or extensive burn injuries, prolonged bed rest, anorexia , or malabsorption syndromes. Herewith we are reporting a case of post pancreatitis SMA syndrome. KEYWORDS: Post pancreatitis SMA syndrome; superior mesenteric artery syndrome; SMA syndrome.

  3. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  4. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  5. Serotonin Syndrome

    Directory of Open Access Journals (Sweden)

    Harold Muñoz Cortés

    2004-08-01

    Full Text Available The serotonin syndrome is a clinical condition associated with serotonin agonists, prescribed to treat some psychiatric and non psychiatric diseases like affective, anxiety and pain disorders. Is due to an excessive stimulation of central and peripheral serotonin receptors that leads to mental, autonomic and neuromuscular changes. Usually the disorder resolves within the first 24 hours after the medications are discontinued, however some patients progress to a multiple organ failure and die. This paper is a theoretical review of the fundamental aspects of the serotonin syndrome, beginning with a brief review of the anatomic and physiologic features of serotonin system, to continue to examine the most relevant historic, diagnosis, clinical and treatment aspects of the syndrome.

  6. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  7. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta.1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific.3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies.4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  8. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  9. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  10. 46,XX Male Syndrome

    Directory of Open Access Journals (Sweden)

    Bekir Uçan

    2013-06-01

    Full Text Available 46, XX male syndrome – testicular disorder of sexual differentiation (DSD is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic. Turk Jem 2013; 17: 46-8

  11. Noonan syndrome and chylothorax

    International Nuclear Information System (INIS)

    Chylothorax during childhood usually develops as a result of posto-perative complications following cardiothoracic surgery. It is rarely due to the malformations of the lymphatic system associated with dysmorphic syndrome. We report two cases of Noonan syndrome involving neonatal development of chylothorax. In children with the Noonan phenotype who develop pleural effusion during the neonatal period in the absence of obstetric trauma, it is advisable to rule out the presence of congenital lymphatic malformation and study the pleural effusion, initially introducing conservative treatment with dietary therapy. Chest radiography, ultrasound and computed tomography reveal the presence of the pleural effusion and parenchymal pattern compatible with chloroethoxy and lymphangiectasis. (Author) 15 refs

  12. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  13. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  14. [Eisenmenger syndrome].

    Science.gov (United States)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G; Hansen, Peter Bo; Søndergaard, Lars

    2009-04-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. PMID:19416617

  15. Rapunzel syndrome

    International Nuclear Information System (INIS)

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  16. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  17. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right......-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  18. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  19. Eagle syndrome

    International Nuclear Information System (INIS)

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  20. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  1. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  2. CANCER PREDISPOSITION SYNDROMES IN CHILDREN

    Directory of Open Access Journals (Sweden)

    M. Bajoghli

    2012-05-01

    Full Text Available The term cancer predisposition syndrome (CPSincludes several familial cancers in which a clear mode of inheritance may be established, although a specific gene defect has not been described in all cases.Advance in genetics and the development of new imaging have led to better understanding and early detection of these syndromes and offer the diagnosis of any associated tumors. As a result, imaging has become an essential component to management of CPSs and the care ofchildren with neurofibromatosis type I, Beckwith- Wiedemann syndrome, Von Hippel-Lindau (VHL, multiple endocrine neoplasia (MEN, familial adenomatous polyp and other syndromes. A radiologist should be familiar with these syndromes, their common associated tumors and thenew imaging techniques that are available to optimize the assessment of affected children.Of course recent advance in genetics has led to better understanding and early recongnition of these diseases and proper genetic counseling helps these patients.

  3. Horner's syndrome and thyroid neoplasms.

    Science.gov (United States)

    Leuchter, Igor; Becker, Minerva; Mickel, Robert; Dulguerov, Pavel

    2002-01-01

    Although thyroid goiter is a common condition, it rarely results in Horner's syndrome. We report a case of a patient with an intrathoracic multinodular goiter complicated by Horner's syndrome. Benign thyroid disease was confirmed pathologically, and the patient's symptoms improved after surgery. In the literature, the major cause of Horner's syndrome is neoplasia, with malignant lesions being twice as frequent as benign tumors. An extensive review of the literature demonstrates a different repartition for thyroid neoplasia: including our case, 38 cases of Horner's syndrome secondary to a benign thyroid tumor are described, against only 8 cases caused by a thyroid carcinoma. We conclude that contrary to the commonly held opinion, Horner's syndrome is more often due to benign thyroid diseases than to thyroid malignancies. PMID:11891400

  4. [Metabolic syndrome--psychosomatic associations].

    Science.gov (United States)

    Kolesnikov, D B; Rapoport, S I

    2008-01-01

    According to epidemiological investigations data, 10 to 35% of all population suffers from metabolic syndrome. However, until now, in spite of researches, metabolic syndrome remains little-studied complex problem. The aim of the review is summarized analysis of the researches results, going out the limits of internal diseases clinics and reflecting more complicated, psychosomatic mechanisms of the syndrome development. The data of literature indicate the row of patterns in development of psyche and metabolic processes disturbances. Analysis of various directions in study of metabolic syndrome with concomitant mental disturbances is represented in the article. The authors propose to perform further investigation subject to "multisectorality" of the disease, marking out prevailing mechanisms of development of metabolic syndrome subject to somatic and mental factors. PMID:18368784

  5. Novel approach to evaluation of medical care quality delivered to patients with ST-segment elevation acute coronary syndrome: course to clinical result

    Directory of Open Access Journals (Sweden)

    Posnenkova О.М.

    2014-09-01

    Full Text Available The purpose was to implement system analysis of clinical cases for development of healthcare quality indicators for STe-ACS patients, aimed at achievement of clinical result — decrease of in-hospital mortality. Mathehal and Methods. National recommendations on diagnostic and treatment of patients with myocardial infarction with ST-segment elevation on ECG (2007 were used to determine clinical result of treatment and key measures of medical care. To reveal major causes of clinical result non-achievement fishbone diagram was used. Results. Early reperfusion and optimal medical therapy were determined as the key measures of medical care delivered to patients with STe-ACS. The following indicators were developed to control these measures: «Primary reperfusion», «Thrombolysis in 30 minutes», «Primary percutaneous coronary intervention in 90 minutes», «Dual antiplatelet therapy in hospital», «Beta-blockers administration», «ACE-is/ARBs administration». The major causes of in-hospital mortality were separated. Indicators for assessment the major causes of clinical result non-achievement were proposed. Principal stages of performance measures creation were posed. Conclusion. Recommendation-based and clear definition of clinical result of treatment and key measures of the result achievement combined with methods of systems analysis allows development of evidence-based measures for assessment the quality of care delivered to patients with STe-ACS.

  6. Lynch Syndrome: An Updated Review

    Directory of Open Access Journals (Sweden)

    Rishabh Sehgal

    2014-06-01

    Full Text Available Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.

  7. Prenatal Diagnosis of WAGR Syndrome

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  8. Fetal Alcohol Syndrome.

    Science.gov (United States)

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  9. PRES syndrome

    International Nuclear Information System (INIS)

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  10. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    J.C. Vis; K. van Engelen; J. Timmermans; B.C. Hamel; B.J.M. Mulder

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  11. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  12. Nephrotic Syndrome

    Science.gov (United States)

    ... use of certain legal and illegal drugs, or morbid obesity can lead to nephrotic syndrome. Symptoms Some kids ... KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All ...

  13. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  14. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  15. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  16. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  17. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  18. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  19. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  20. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  1. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  2. Marfan syndrome masked by Down syndrome?

    OpenAIRE

    Mulder, B. J.; van Engelen, K.; Vis, J.C.; Timmermans, J.; Hamel, B C J

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  3. Performance measures for management of chronic heart failure patients with acute coronary syndrome in China: results from the Bridging the Gap on Coronary Heart Disease Secondary Prevention in China (BRIG)Project

    Institute of Scientific and Technical Information of China (English)

    WANG Na; ZHAO Dong; LIU Jing; LIU Jun; Cheuk-Man Yu; WANG Wei; SUN Jia-yi

    2013-01-01

    Background Chronic heart failure (CHF) is a severe clinical syndrome associated with high morbidity and mortality,and with high health care expenditures.No nationwide data are currently available regarding the quality of clinical management of CHF patients in China.The aim of this study was to assess the quality of care of CHF inpatients in China.Methods The American College of Cardiology/American Heart Association Clinical Performance Measures for Adults with Chronic Heart Failure (Inpatient Measurement Set) with slight modifications was used to measure the performance status in 612 CHF patients with acute coronary syndrome (ACS) from 65 hospitals across all regions of China.Results The implementation rates of guideline recommended strategies for CHF management were low.Only 57.5% of the CHF patients received complete discharge instructions,53.6% of the patients received evaluation of left ventricular systolic function,62.8% received an angiotensin-converting enzyme inhibitor/angiotensin receptor blocker at discharge,and 52.7% received a β-blocker at discharge,56.3% of the smokers received smoking cessation counseling.The rate of warfarin utilization was only 9.7% in CHF patients with atrial fibrillation.Most patients (81.4%) did not receive all the first four treatments.There were marked differences in the quality of CHF management among patients with different characteristics.Conclusions Performance measures provide a standardized method of assessing quality of care,and can thus highlight problems in disease management in clinical practice.The quality of care for CHF patients with ACS in China needs to be improved.

  4. Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome

    Science.gov (United States)

    Williams, Tracey A.; Porter, Melanie A.; Langdon, Robyn

    2013-01-01

    Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

  5. Clinical Features of Turner Syndrome

    Science.gov (United States)

    ... growth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights ... easily treated with thyroid hormone supplements. Cognitive Function/Educational Issues In general, individuals with Turner syndrome have ...

  6. Enlarged Vestibular Aqueduct Syndrome (EVAS)

    Science.gov (United States)

    ... referred to as EVA syndrome (EVA). CAUSES During fetal development, the vestibular aqueduct starts out as a wide ... in early gestation, or EVA results from aberrant development later in fetal and postnatal life. It is believed that an ...

  7. Genetics Home Reference: Andermann syndrome

    Science.gov (United States)

    ... individuals also develop abnormal curvature of the spine ( scoliosis ), which may require surgery. Andermann syndrome also results ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  8. First results about recovery of walking function in patients with intensive care unit-acquired muscle weakness from the General Weakness Syndrome Therapy (GymNAST) cohort study

    OpenAIRE

    Mehrholz, Jan; Mückel, Simone; Oehmichen, Frank; Pohl, Marcus

    2015-01-01

    Objectives To describe the time course of recovery of walking function and other activities of daily living in patients with intensive care unit (ICU)-acquired muscle weakness. Design This is a cohort study. Participants We included critically ill patients with ICU-acquired muscle weakness. Setting Post-acute ICU and rehabilitation units in Germany. Measures We measured walking function, muscle strength, activities in daily living, motor and cognitive function. Results We recruited 150 patien...

  9. Mesenteric ischemia after capecitabine treatment in rectal cancer and resultant short bowel syndrome is not an absolute contraindication for radical oncological treatment

    OpenAIRE

    Perpar Ana; Brecelj Erik; Kozjek Nada Rotovnik; Anderluh Franc; Oblak Irena; Vidmar Marija Skoblar; Velenik Vaneja

    2015-01-01

    Background. Thrombotic events, arterial or venous in origin, still remain a source of substantial morbidity and mortality in cancer patients. The propensity for their development in oncology patients is partially a consequence of the disease itself and partially a result of our attempts to treat it. One of the rarest and deadliest thromboembolic complications is arterial mesenteric ischemia. The high mortality rate is caused by its rarity and by its non-specific clinical presentation, both of...

  10. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    OpenAIRE

    Gravholt, C. H.; Juul, S; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant g...

  11. Impact of abciximab in diabetic patients with acute coronary syndrome who undergo percutaneous coronary intervention: results from a high-volume, single-center registry

    DEFF Research Database (Denmark)

    Iversen, Allan; Haahr-Pedersen, Sune Ammentorp; Joens, Christian;

    2011-01-01

    glycoprotein IIb/IIIa inhibitor abciximab might be more efficient in diabetics than in those without DM. METHODS AND RESULTS: We evaluated the effect of abciximab in patients with DM and ACS from our percutaneous coronary intervention (PCI) registry. Among 5,003 patients with ACS who underwent PCI, 629 had DM....... Patients were followed for up to 3 years with regard to mortality, myocardial infarction (MI) and target vessel revascularization (TVR). Despite a more severe risk profile, adjusted analyses revealed a marked reduction in TVR (hazard ratio [HR], 0.30; confidence interval [CI], 0.14-0.63; p = 0...... reduction in MI was not significant. CONCLUSION: Our findings suggest that abciximab administered to ACS patients with DM during PCI reduces mortality and the need for TVR to rates similar to those seen in patients without DM and far below the risk in DM patients who do not receive abciximab....

  12. Results availability for analgesic device, complex regional pain syndrome, and post-stroke pain trials: comparing the RReADS, RReACT, and RReMiT databases

    Science.gov (United States)

    Dufka, Faustine L.; Munch, Troels; Dworkin, Robert H.; Rowbotham, Michael C.

    2015-01-01

    Abstract Evidence-based medicine rests on the assumption that treatment recommendations are robust, free from bias, and include results of all randomized clinical trials. The Repository of Registered Analgesic Clinical Trials search and analysis methodology was applied to create databases of complex regional pain syndrome (CRPS) and central post-stroke pain (CPSP) trials and adapted to create the Repository of Registered Analgesic Device Studies databases for trials of spinal cord stimulation (SCS), repetitive transcranial magnetic stimulation (rTMS), and transcranial direct current stimulation (tDCS). We identified 34 CRPS trials, 18 CPSP trials, 72 trials of SCS, and 92 trials of rTMS/tDCS. Irrespective of time since study completion, 45% of eligible CRPS and CPSP trials and 46% of eligible SCS and rTMS/tDCS trials had available results (peer-reviewed literature, results entered on registry, or gray literature); peer-reviewed publications could be found for 38% and 39%, respectively. Examining almost 1000 trials across a spectrum of painful disorders (fibromyalgia, diabetic painful neuropathy, post-herpetic neuralgia, migraine, CRPS, CPSP) and types of treatment, no single study characteristic consistently predicts unavailability of results. Results availability is higher 12 months after study completion but remains below 60% for peer-reviewed publications. Recommendations to increase results availability include supporting organizations advocating for transparency, enforcing existing results reporting regulations, enabling all primary registries to post results, stating trial registration numbers in all publication abstracts, and reducing barriers to publishing “negative” trials. For all diseases and treatment modalities, evidence-based medicine must rigorously adjust for the sheer magnitude of missing results in formulating treatment recommendations. PMID:25599303

  13. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  14. Caries in Portuguese children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Maria Areias

    2011-01-01

    Full Text Available OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. CONCLUSIONS: Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  15. Williams-Beuren's Syndrome: A Case Report

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem. PMID:22927862

  16. 奥运食品ATP检测与人群症状监测结果相关性研究%CORRELATIVE ANALYSIS BETWEEN RESULTS OF ATP TEST AND SYNDROMIC SURVEILLANCE FOR BEIJING OLYMPIC GAMES

    Institute of Scientific and Technical Information of China (English)

    黎新宇; 高婷; 杨鹏; 王全意; 庞星火

    2011-01-01

    [Objective] To realize correlation between results of ATP test and syndromic surveillance for Beijing Olympic games. [ Methods] Active rate of ATP test and number of symptoms were analyzed for studying correlation between them. [Results] Number of ATP test in Beijing Olympic venues was 922 and active rate was 14.21%. Jaundice patient was not appearing during the period of the 29th Olympic game. Other four symptoms number was 753 and general incidence was 309.88/ 100 000. The proportions of diarrhea and fever were 50.33% and 33.07%, respectively. By correlative analysis, the correlation between the lour symptoms and results of ATP lest were statistic significant. [Conclusion] ATP test and syndromic surveillance were important measurements for security of major events.%[目的]探讨奥运场馆餐饮 ATP 检测与人群症状发生的相关关系.[方法]统计分析奥运期间餐饮 ATP超过预警值的结果和发生症状人数,采用相关性分析方法探讨两者的关联性.[结果]奥运期间在奥运核心场馆共进行了 ATP 快速检测 922 件,超过预警值百分比为 14.21%.奥运期间未发生黄疸病人,其他 4 类症状共发生 753 人,发生率为 309.88/10 万;其中腹泻发生最多,占 50.33%,其次为发热,占33.07%;通过对二者进行相关性比较发现 4 种症状的发生与 ATP 检测呈现明显的相关性.[结论]在大型活动中开展食品卫生快速检测和症状监测是重要的保障措施.

  17. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  18. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  19. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features ...

  20. HABERLAND SYNDROME

    Directory of Open Access Journals (Sweden)

    Ratnakumari

    2014-08-01

    Full Text Available Encephalo cranio cutaneous lipomatosis (ECCL is a rare neuro-cutaneous syndrome. It is characterized by unilateral lipomas of the cranium, face, and neck, ipsilateral lipodermoids of the eye, ipsilateral brain anomalies. There are 53 cases mentioned so far in the literature. To our knowledge, only 3 cases were reported from India. We report a case of a baby girl who presented in our institution for neuro-radiological evaluation based on which diagnosis of ECCL was made.

  1. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  2. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  3. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  4. Mermaid syndrome

    OpenAIRE

    Çelik, Yalçın; Turhan, Ali Haydar; Gülaşı, Selvi; Kara, Tuğba; Şenli, Hicran; Atıcı, Aytuğ

    2013-01-01

    Sirenomelia also known as the mermaid syndrome is a very rare congenital anomaly characterized by lower limb fusion and severe urogenital gastrointestinal cardiovasculer central nervous system malformations We report a case of sirenomelia who had a single umblical artery renal agenesis pulmoner hypoplasia esophageal atresia ventricular septal defect anal atresia intestinal atresia and who was lost at fifth hour of life Turk Arch Ped 2013; 48: 65 7

  5. Noonan Syndrome

    OpenAIRE

    Bhambhani, Vikas; Muenke, Maximilian

    2014-01-01

    Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, visio...

  6. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite...

  7. Caroli's syndrome

    International Nuclear Information System (INIS)

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen. (orig.)

  8. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  9. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Rachel Bastiaenen

    2011-12-01

    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  10. Burnout syndrome

    Czech Academy of Sciences Publication Activity Database

    Kebza, V.; Šolcová, Iva

    Praha: EFPA/UPA, 2007 - (Polišenská, V.; Šolc, M.; Kotrlová, J.). s. 31 ISBN 978-80-7064-017-3. [European Conress of Psychology /10./. 03.07.2007-06.07.2007, Praha] R&D Projects: GA ČR GA406/06/0747 Institutional research plan: CEZ:AV0Z70250504 Keywords : burnout syndrome * type D personality * physiological indicators Subject RIV: AN - Psychology

  11. Glucagonoma and Pseudoglucagonoma Syndrome

    Directory of Open Access Journals (Sweden)

    Ibánez Aguirre J

    2004-07-01

    Full Text Available CONTEXT: Glucagonoma syndrome may present either associated with a pancreatic neoplasm which secretes glucagon or as a pseudo-glucagonoma associated with other diseases. It is extremely infrequent but well-known with a current prevalence estimated at 1/20,000,000. DESIGN: A retrospective review of glucagonoma and pseudoglucagonoma cases observed between January 1998 and December 2003 in three hospitals. PATIENTS: Five cases: 3 with a demonstrable glucagon-secreting tumor and 2 cases without an associated neoplasm. MAIN OUTCOME MEASURES: Age, sex, initial diagnosis, associated symptoms, and pathology were analyzed as were procedures employed in diagnosis, imaging studies, laboratory data, surgery and follow-up. RESULTS: Hyperglycemia and elevated plasma glucagon levels were found in all cases. In 3 cases, hypo-aminoacidemia and a descrease in fatty acids were found . No changes of zinc levels were observed. Abdominal ultrasound studies were of no value except in evaluating pancreatitis. A CT-scan was conclusive when a pancreatic neoplasm existed and 3 patients were operated on a curative basis. DISCUSSION: Necrolytic migratory erythema was the key diagnosis in all cases. Surgery was intended to be curative. The follow-up was of 8, 37 and 57 months in the cases of true glucagonoma syndrome. CONCLUSIONS: A real prevalence of glucagonoma syndrome could be greater than currently estimated. In our series, it was 13.5/20,000,000. Pseudoglucagonoma syndrome remains a rarity.

  12. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  13. Noonan syndrome.

    Science.gov (United States)

    Bhambhani, Vikas; Muenke, Maximilian

    2014-01-01

    Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available. PMID:24444506

  14. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  15. ALSTROM SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shivakumar

    2015-11-01

    Full Text Available Alstrom Syndrome was first described by Carl Henry Alstrom in 1959. The key features include childhood onset obesity, congenital retinal dystrophy leading to blindness, sensori-neural deafness. The associated endocrinologic aspects are early onset type 2 Diabetes Mellitus, hyperinsulinemia, hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS.The normal protein is present at very low levels in most tissues. The mutation results in a non-functional protein, explaining the various signs and symptoms of Alstrom’s. Here we report on a case with Alstrom Syndrome at the age of 28 years. She came with the complaints of generalised swelling of the body, breathlessness, decreased urine output with a significant past history of visual and hearing impairment, diabetes, hypertension, and recurrent urinary tract infections. Awareness of Alstrom Syndrome is lacking despite the complexity and lethality of this disorder. Thus Alstrom Syndrome can be thought of as a rare genetic disorder with several feature similar to metabolic syndrome. It is a rare disease and difficult to make differential diagnosis with other similar syndromes, therefore this case will be a good example of Alstrom Syndrome for the literature.

  16. National Down Syndrome Society

    Science.gov (United States)

    ... with Down Syndrome Since 1979 National Down Syndrome Society 8 E 41st Street, 8th Floor New York ... Program! The mission of the National Down Syndrome Society is to be the national advocate for the ...

  17. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  18. Fetal Alcohol Syndrome

    Science.gov (United States)

    ... Condiciones Chinese Conditions Fetal Alcohol Syndrome Read in Chinese What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome (FAS) describes changes in a baby born to a mother whose pregnancy was complicated by alcohol consumption. A broader term ...

  19. Tourette Syndrome (For Parents)

    Science.gov (United States)

    ... their child cope with the condition. About Tourette Syndrome Tourette syndrome (TS) is named for French doctor Georges ... people with TS. previous continue Diagnosing and Treating Tourette Syndrome Pediatricians and family doctors may refer a child ...

  20. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Barth Syndrome Information Page Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Barth Syndrome? Barth syndrome (BTHS) is a rare, genetic disorder ...

  1. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  2. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  3. Quinine improves results of intensive chemotherapy (IC) in myelodysplastic syndromes (MDS) expressing P-glycoprotein (PGP). Updated results of a randomized study. Groupe Français des Myélodysplasies (GFM) and Groupe GOELAMS.

    Science.gov (United States)

    Wattel, E; Solary, E; Hecquet, B; Caillot, D; Ifrah, N; Brion, A; Milpied, N; Janvier, M; Guerci, A; Rochant, H; Cordonnier, C; Dreyfus, F; Veil, A; Hoang-Ngoc, L; Stoppa, A M; Gratecos, N; Sadoun, A; Tilly, H; Brice, P; Lioure, B; Desablens, B; Pignon, B; Abgrall, J P; Leporrier, M; Fenaux, P

    1999-01-01

    We designed a randomized trial of IC with or without quinine, an agent capable of reverting the multidrug resistance (mdr) phenotype, in patients aged < or = 65 years with high risk MDS. Patients were randomized to receive Mitoxantrone 12 mg/m2/d d2-5 + AraC 1 g/m2/12 h d1-5, with (Q+) or without (Q-) quinine (30 mg/kg/day). 131 patients were included. PGP expression analysis was successfully made in 91 patients and 42 patients (46%) had positive PGP expression. In PGP positive cases, 13 of the 25 (52%) patients who received quinine achieved CR, as compared to 3 of the 17 (18%) patients treated with chemotherapy alone (p = 0.02). In PGP negative cases, the CR rate was 35% and 49%, respectively in patients who received quinine or chemotherapy alone (difference not significant). In the 42 PGP positive patients, median Kaplan-Meier (KM) survival was 13 months in patients allocated to the quinine group, and 8 months in patients treated with chemotherapy alone (p = 0.01). In PGP negative patients, median KM survival was 14 months in patients allocated to the quinine group, and 14 months in patients treated with chemotherapy alone. Side effects of quinine mainly included vertigo and tinnitus that generally disappeared with dose reduction. Mucositis was significantly more frequently observed in the quinine group. No life threatening cardiac toxicity was observed. In conclusion, results of this randomized study show that quinine increases the CR rate and survival in PGP positive MDS cases treated with IC. The fact that quinine had no effect on the response rate and survival of PGP negative MDS suggests a specific effect on PGP mediated drug resistance rather than, for instance, a simple effect on the metabolism of Mitoxantrone and/or AraC. PMID:10500778

  4. Growth curve for girls with Turner syndrome.

    OpenAIRE

    Lyon, A. J.(University of Manchester, M13 9PL, Manchester, United Kingdom); Preece, M A; Grant, D B

    1985-01-01

    A growth chart for girls with Turner syndrome has been prepared using data from four published series of European patients, and evaluated using retrospective data on the heights of girls with Turner syndrome seen at this hospital. The results indicate that calculation of height standard deviation score from this chart allows a reasonable prediction of adult stature in any patient with Turner syndrome. In addition, the results indicate that while oestrogen treatment causes an initial accelerat...

  5. Cauda-conus syndrome resulting from neurocysticercosis

    Directory of Open Access Journals (Sweden)

    Singh N

    2003-01-01

    Full Text Available A 60-year-old male, presented with insidious onset, gradually progressive, burning paresthesia over the saddle area, sphincteric disturbance, impotence and paraparesis. Investigations revealed a ring-enhancing lesion in the conus medullaris suggestive of neurocysticercosis . This was supported by quantitative enzyme-linked immunosorbant assay from purified cell fraction of taenia solium cysticerci. On treatment with steroids he showed marked improvement.

  6. Long-term results in syndromic craniosynostosis

    NARCIS (Netherlands)

    T. de Jong (Tim)

    2012-01-01

    textabstractSkull sutures are fibrous joints between the different bones of the skull. In adult life they have no function but in the foetus they allow the bones to move during the birth process and are involved in skull growth till the age of six years. After the age of six years skull growth takes

  7. Trisomy 18 (Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Poureisa

    2009-01-01

    Full Text Available Description and Definition "n"n Synonym: Edward syndrome Characterized by malformations of multiple organ systems, trisomy 18 has an incidence of 3 in 10000 live births. Abnormalities detectable by ultrasound Common findings Agenesis of the corpus callosum Choroid plexus cysts Posterior fossa abnormalities Micrognathia Low-set ears Microphthalmous Hypertelorism Short radial ray Clenched hand with overlapping index finger Clubbed foot Rocker-bottom foot Renal anomalies hydronephrosis Omphalocele Diaphragmatic hernia Cryptorchidism Heart defects Single umbilical artery Intrauterine growth restriction Polyhydramnios Nuchal lucency Occasional findings Meningomyelocele Ventriculomegaly Cleft lip and plate Major differential diagnoses Freeman-Sheldon syndrome (clenched hands and intrauterine growth restriction Pena Shokeir syndrome (pseudo-trisomy 18 Smith-Lemli-Opitz syndrome (clenched hands and intrauterine grown restriction Triploidy (intrauterine growth restriction Trisomy 9 Other multiple malformation syndromes associated with intrauterine growth retardation, limb anomalies and/ or heart defects. Ultrasound diagnosis Prenatal; ultrasound diagnosis has been established in the first trimester, based on the finding of a nuchal lucency. Detectable features on the early second trimester include abnormal forearms, clenched hands, clubbed feet, omphalocele and a major heart defect. The features of trisomy 18 are detectable in 80% of affected fetuses in the second trimester. Sonography is often used to evaluate fetuses for the prsence of trisomy 18 when choroid plexus cysts are present, or when the triple screen results in a low level of maternal serum alpha- fetoprotein, estriol and human chorionic  gonadotropin combination. Although trisomy 18 occurs in 1 in 100 fetuses with choroid plexus cysts, if it is an isolated finding, the risk for trisomy 18 falls below 1 in 400. Documenting an open hand is very helpful as most fetuses with trisomy 18 are

  8. HERLYN - WERNER - WUNDERLICH SYNDROME (HWW SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Pallavi S

    2015-08-01

    Full Text Available Congenital anomalies of the mullerian duct system can result in various urogenital anomalies and, Herlyn Werner Wunderlich syndrome (HWW syndrome is one such rare anomaly . This syndrome is characterized by uterus didelphys with blind hemi vagina and ipsilateral renal agenesis . 1 it is also known as OHVIRA (Obstructed Hemi vagina with Ipsilateral Renal Anomaly syndrome . 2 Mullerian anomalies are frequently associated with renal anomalies, the incidence ranges from 0.2 to 7.4%. 3 Diagnosis of this condition is rarely made in prepubertal girls, and rather it is diagnosed after menarche. Common clinical presentation is pelvic pain shortly after menarche with an associated vaginal or pelvic mass. 4 this triad of obstructed hemi vagina, uterus didelphys and ipsilateral renal agenesis was first reported in 1950.

  9. Testosterone Undecanoate Capsule Application Results in the Treatment of Male Menopause Syndrome%十一酸睾酮胶囊丸在男性更年期综合征治疗中的应用效果

    Institute of Scientific and Technical Information of China (English)

    罗伟聪; 华伟; 燕华

    2014-01-01

    Objective:To discuss Testosterone Undecanoate Capsule(Andriol) application in the treatment of male menopause syndrome.Method:100 cases of male patients with climacteric syndrome from September 2011 to September 2011 in the author’s hospital,using the random number table method were divided into the observation group and control group,50 cases each. Observer group was treated with Testosterone Undecanoate Capsule,the control group was treated with traditional Chinese medicine dialectical for kidney deficiency taking Erxian Soup.Result:Observation group before treatment serum total testosterone levels was (5.04±1.56)nmol/L,rise to eight weeks after the treatment was (8.06±2.97)nmol/L,and the control group before treatment serum total testosterone levels was (4.92±1.78)nmol/L,after 8 weeks after treatment with Erxian Soup was (6.14±2.33)nmol/L,observation group after treatment serum total testosterone levels was higher than that of control group,the difference was statistically significant(P<0.05). Conclusion:In the treatment of male menopause syndrome treated by Testosterone Undecanoate Capsule(Andriol),can significantly improve the patients,male hormones,enhance the level of serum total testosterone and ease of vasomotor symptoms,and is worth popularizing in clinical application.%目的:探讨十一酸睾酮胶囊丸在男性更年期综合征治疗中的应用效果。方法:选取2011年9月-2013年9月笔者所在医院收治的100例男性更年期综合征患者,采用随机数字表法将其分为观察组和对照组,各50例。观察组服用十一酸睾酮胶囊丸,对照组经中医辨证为肾虚证服用二仙汤。结果:观察组治疗前血清总睾酮水平为(5.04±1.56)nmol/L,治疗8周后升至(8.06±2.97)nmol/L,对照组治疗前血清总睾酮水平为(4.92±1.78)nmol/L,治疗8周后升至(6.14±2.33)nmol/L,观察组治疗后血清总睾酮水平高于对照组,差异有统计学意义(P<0.05)。结论:在男性

  10. Resultados preliminares del pesquisaje neonatal inmunohistoquímico para la detección del síndrome de frágil X Preliminary results of the immunohistochemical neonatal screening for detecting the fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Roberto Lardoeyt Ferrer

    2004-09-01

    Full Text Available El síndrome de frágil X constituye la entidad genética que ocupa el primer lugar como causa de retraso mental hereditario, caracterizado por un fenotipo físico y psiconeuroconductual muy peculiar. Han sido innumerables los estudios que se han realizado con el fin de dilucidar la función del gen y la localización de la proteína que la misma codifica relacionado con esta afección, entre los cuales se encuentran las técnicas inmunohistoquímicas. Se aplicó la técnica inmunohistoquímica con el objetivo de detectar individuos con riesgo genético de presentar el síndrome de frágil X a través de un pesquisaje neonatal en un período de 14 meses. Se pesquisaron un total de 2 914 recién nacidos varones, de los cuales 2 414 obtuvieron resultados inmunohistoquímicos. Diez casos fueron proteína negativos, en los cuales su desarrollo psicomotor fue evaluado exhaustivamente durante un período de 3 años, y fue normal; no se detectó ningún individuo con la enfermedad.The Fragile X syndrome is the genetic entity that is the first cause of hereditary mental retardation characterized by a very peculiar physical and psychoneuroconductal phenotype. Innumerable studies, including the immunohistochemical techniques, have been conducted aimed at dilucidating the gene's function and the localization of the protein that it codified related to this affection. The immunohistochemical techique was used in order to detect individuals at genetical risk for presenting Fragile X syndrome by neonatal screening in 14 months. A total of 2 914 male infants were screened of whom 2 414 showed histochemical results. 10 cases tested negative protein. Their psychomotor development was exhaustively evaluated for 3 years and it was normal. The disease was not detected in any individual.

  11. Chinese Herbal Medicines Might Improve the Long-Term Clinical Outcomes in Patients with Acute Coronary Syndrome after Percutaneous Coronary Intervention: Results of a Decision-Analytic Markov Model

    Directory of Open Access Journals (Sweden)

    Shao-Li Wang

    2015-01-01

    Full Text Available Aims. The priority of Chinese herbal medicines (CHMs plus conventional treatment over conventional treatment alone for acute coronary syndrome (ACS after percutaneous coronary intervention (PCI was documented in the 5C trial (chictr.org number: ChiCTR-TRC-07000021. The study was designed to evaluate the 10-year effectiveness of CHMs plus conventional treatment versus conventional treatment alone with decision-analytic model for ACS after PCI. Methods and Results. We constructed a decision-analytic Markov model to compare additional CHMs for 6 months plus conventional treatment versus conventional treatment alone for ACS patients after PCI. Sources of data came from 5C trial and published reports. Outcomes were expressed in terms of quality-adjusted life years (QALYs. Sensitivity analyses were performed to test the robustness of the model. The model predicted that over the 10-year horizon the survival probability was 77.49% in patients with CHMs plus conventional treatment versus 77.29% in patients with conventional treatment alone. In combination with conventional treatment, 6-month CHMs might be associated with a gained 0.20% survival probability and 0.111 accumulated QALYs, respectively. Conclusions. The model suggested that treatment with CHMs, as an adjunctive therapy, in combination with conventional treatment for 6 months might improve the long-term clinical outcome in ACS patients after PCI.

  12. Safety, tolerability, and initial efficacy of AZD6140, the first reversible oral adenosine diphosphate receptor antagonist, compared with clopidogrel, in patients with non-ST-segment elevation acute coronary syndrome: primary results of the DISPERSE-2 trial

    DEFF Research Database (Denmark)

    Cannon, Christopher P; Husted, Steen; Harrington, Robert A;

    2007-01-01

    OBJECTIVES: Our goal was to compare the safety and initial efficacy of AZD6140, the first reversible oral adenosine diphosphate receptor antagonist, with clopidogrel in patients with non-ST-segment elevation acute coronary syndromes (NSTE-ACS). BACKGROUND: AZD6140 achieves higher mean levels of...... platelet inhibition than clopidogrel in patients with stable coronary artery disease. METHODS: A total of 990 patients with NSTE-ACS, treated with aspirin and standard therapy for ACS, were randomized in a 1:1:1 double-blind fashion to receive either twice-daily AZD6140 90 mg, AZD6140 180 mg, or...... clopidogrel 300-mg loading dose plus 75 mg once daily for up to 12 weeks. RESULTS: The primary end point, the Kaplan-Meier rate of major or minor bleeding through 4 weeks, was 8.1% in the clopidogrel group, 9.8% in the AZD6140 90-mg group, and 8.0% in the AZD6140 180-mg group (p = 0.43 and p = 0...

  13. A fatal case of Perthes syndrome

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    Jérôme Jobé

    2013-01-01

    Full Text Available Perthes syndrome, or traumatic asphyxia, is a clinical syndrome associating cervicofacial cyanosis with cutaneous petechial haemorrhages and subconjonctival bleeding resulting from severe sudden compressive chest trauma. Deep inspiration and a Valsalva maneuver just prior to rapid and severe chest compression, are responsible for the development of this syndrome. Current treatment is symptomatic: urgent relief of chest compression and cardiopulmonary resuscitation if needed. Outcome may be satisfactory depending on the duration and severity of compression. Prolonged thoracic compression may sometimes lead to cerebral anoxia, irreversible neurologic damage and death. We report a fatal case of Perthes syndrome resulting from an industrial accident.

  14. A study to detect HELLP syndrome and partial HELLP syndrome among preeclamptic mothers and their impact on fetomaternal outcome

    Directory of Open Access Journals (Sweden)

    Abhijit Rakshit

    2014-01-01

    Full Text Available Objective: The purpose of the study was to detect & evaluate the feto-maternal outcome of HELLP syndrome & partial HELLP syndrome among preeclamptic mothers. Materials and methods: This cross sectional observational study analysed feto-maternal outcome in 44 patients with HELLP syndrome and 32 patients with partial HELLP syndrome and compared with 556 patients having preeclampsia without features of HELLP syndrome. Results: 600 patients were included in this study. The prevalence of HELLP syndrome and partial HELLP syndrome were found to be 7.3% and 5.3% respectively in preeclampsia. The systolic blood pressure, gestational age at admission and during delivery, haematological and biochemical variables, rate of spontaneous vaginal delivery and type of anaesthesia were significantly different in HELLP syndrome and partial HELLP syndrome than in the preeclampsia group. There were statistically significant difference in perinatal outcome like birth weight, intrauterine death, neonatal death, and admission in NICU. Eclampsia was significantly increased in both HELLP syndrome and partial HELLP syndrome. Conclusion: Both HELLP and partial HELLP syndrome must be diagnosed as soon as possible in pregnant or post partum women with preeclampsia. HELLP syndrome is severe than preeclampsia in terms of maternal and perinatal outcome. Partial HELLP syndrome is almost as grave as HELLP syndrome.

  15. Ectopic corticotroph syndrome

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    Penezić Zorana

    2004-01-01

    Full Text Available INTRODUCTION Endogenous Cushing's syndrome is a clinical state resulting from prolonged, inappropriate exposure to excessive endogenous secretion of Cortisol and hence excess circulating free cortisol, characterized by loss of the normal feedback mechanisms of the hypothalamo-pituitary-adrenal axis and the normal circadian rhythm of cortisol secretion [2]. The etiology of Cushing's syndrome may be excessive ACTH secretion from the pituitary gland, ectopic ACTH secretion by nonpituitary tumor, or excessive autonomous secretion of cortisol from a hyperfunctioning adrenal adenoma or carcinoma. Other than this broad ACTH-dependent and ACTH-independent categories, the syndrome may be caused by ectopic CRH secretion, PPNAD, MAH, ectopic action of GIP or catecholamines, and other adrenel-dependent processes associated with adrenocortical hyperfunction. CASE REPORT A 31 year-old men with b-month history of hyperpigmentation, weight gain and proximal myopathy was refereed to Institute of Endocrinology for evaluation of hypercortisolism. At admission, patient had classic cushingoid habit with plethoric face, dermal and muscle atrophy, abdominal strie rubrae and centripetal obesity. The standard laboratory data showed hyperglycaemia and hypokaliemia with high potassium excretion level. The circadian rhythm of cortisol secretion was blunted, with moderately elevated ACTH level, and without cortisol suppression after low-dose and high-dose dexamethason suppression test. Urinary 5HIAA was elevated. Abdominal and sellar region magnetic resonance imaging was negative. CRH stimulation resulted in ACTH increase of 87% of basal, but without significant increase of cortisol level, only 7%. Thoracal CT scan revealed 14 mm mass in right apical pulmonary segment. A wedge resection of anterior segment of right upper lobe was performed. Microscopic evaluation showed tumor tissue consisting of solid areas of uniform, oval cells with eosinophilic cytoplasm and centrally

  16. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  17. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  18. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  19. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  20. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  1. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  2. Mazabraud syndrome

    Science.gov (United States)

    John, Anulekha Mary; Behera, Kishore Kumar; Mathai, Thomas; Parmar, Harshad; Paul, Thomas V.

    2013-01-01

    A 25 year old lady presented with pain and swelling of left thigh. On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle. Further evaluation revealed expansile bony lesion on X-ray of left tibia and multiple hot spots on bone scan suggestive of fibrous dysplasia. The soft tissue swelling on excision and histopathological examination was found to be intramuscular myxoma. The combination of the above two, called Mazabraud syndrome is being reported. PMID:23961498

  3. Mazabraud syndrome

    Directory of Open Access Journals (Sweden)

    Anulekha Mary John

    2013-01-01

    Full Text Available A 25 year old lady presented with pain and swelling of left thigh. On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle. Further evaluation revealed expansile bony lesion on X-ray of left tibia and multiple hot spots on bone scan suggestive of fibrous dysplasia. The soft tissue swelling on excision and histopathological examination was found to be intramuscular myxoma. The combination of the above two, called Mazabraud syndrome is being reported.

  4. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  5. Alagille Syndrome: A Review

    OpenAIRE

    Callea, Michele; Bahsi, Emrullah; Montanari, Marco; Ince, Bayram; Mancini, Giovanni E.; YAVUZ, Yasemin; Radovich, Franco; Gunay, Ayse; Piana, Gabriela; Unal, Mehmet; D’Alessandro, Giovanni; Caselli, Mauro; Clarich, Gabriella

    2013-01-01

    Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequence of lack of bile excretion secondary to paucity/absence of interlobular bile ducts. That results in hyperbilirubinemia, hypercholesterolemia, hyp...

  6. Imaging of Horner's syndrome

    International Nuclear Information System (INIS)

    Horner's syndrome, or oculosympathetic paresis, results from interruption of the sympathetic trunk innervation to the eye and presents typically with meiosis, ptosis and facial anhydrosis on the affected side.1 The pathological process ranges from benign, such as cluster headache, or life threatening, such as lung malignancy. Appropriate imaging requires an anatomical appreciation of the complex and circuitous route the neuronal pathway takes as it passes from the central nervous system to the eye

  7. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  8. [Tic syndrome].

    Science.gov (United States)

    Czapliński, Adam; Steck, Andreas J; Fuhr, Peter

    2002-01-01

    A tic is an involuntary, sudden, rapid, recurrent, nonrrhythmic, stereotyped, motor movement or vocalization. This paper reviews clinical, pathophysiological, epidemiological and treatment issues of tic disorders. The clinical presentation of tic disorders with simple and complex motor or vocal tics is reviewed in detail. The most common psychiatric comorbid conditions, such as personality disorder (PD), Obsessive-Compulsive Disorder (OCD), Self-Destructive Behavior (SDB) and Attention Deficit Hyperactivity Disorder (ADHD) are presented too. All forms of tics may be exacerbated by anger or stress, but they are usually markedly diminished during sleep. Premonitory feelings or "sensory experiences", which are distinct from the actual motor or phonic tics and precede the tics, occur in over 80% of tic-patients and in 95% of patients with Gilles de la Tourette Syndrome (GTS). The American Psychiatric Association recognizes three types of tic disorders on the basis of clinical criteria: Transient Tic Disorder, Chronic Motor or Vocal Tic Disorder and GTS. The diagnostic criteria for these types are described. According to epidemiological data, up to 10% of children have at least somewhere a transient tic disorder. The onset of tics, whether simple or multiple, occurs at approximately 7 years of age. The accepted prevalence figure for GTS is 0.05-3%. Although tics can appear as the result of brain injury, Huntington chorea or encephalitis, they are most commonly idiopathic. Genetic factors appear to be present in many but not in all cases of tic disorders. Autosomal dominant, sex-linked models or semirecessive-semidominant-oligogenic models have been considered. Based on the review of the literature we believe that tic disorders are related to altered neurotransmitter function within the CNS, especially that the functional abnormality is somehow related to dopaminergic mechanism. Several authors have recently investigated the possible role of autoimmune response to

  9. Features of Polycystic Ovary Syndrome in adolescence

    OpenAIRE

    Tsikouras, P.; Spyros, L; Manav, B; Zervoudis, S.; Poiana, C; Nikolaos, T.; Petros, P; Dimitraki, M; Koukouli, C; Galazios, G; von Tempelhoff, GF

    2015-01-01

    Rationale: To elucidate the prepubertal risk factors associated with the development of Polycystic Ovary Syndrome (PCOS) and determine the special clinical manifestations of the syndrome in this transitional time of a woman’s life. Objective: To propose therapeutic targets and regimens, not only to prevent the long-term complications of the syndrome, but also to improve the self-esteem of a young girl who matures into womanhood. Methods and Results: A systematic review of literature was perfo...

  10. Caries in Portuguese children with Down syndrome

    OpenAIRE

    Cristina Maria Areias; Benedita Sampaio-Maia; Hercilia Guimaraes; Paulo Melo; David Andrade

    2011-01-01

    OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of ...

  11. A Prenatal Case Report with Patau Syndrome

    OpenAIRE

    Balkan, Mahmut; Erdemoğlu, Mahmut; Alp, M. Nail; Budak, Turgay

    2008-01-01

    In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies. Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome), with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation, who ...

  12. METABOLIC SYNDROME – THEORY AND PRACTICE

    OpenAIRE

    Ramic, Enisa; Prasko, Subhija; Mujanovic, Olivera Batic; Gavran, Larisa

    2016-01-01

    Introduction: Due to sedentary lifestyles and excessive calorie intake, metabolic syndrome is becoming increasingly common health problem in the world, as well as in our country, and it is estimated to occur in 30% of the population of middle and older age. The metabolic syndrome is a combination of disorders that include: obesity, insulin resistance, glucose intolerance, impaired regulation of body fat and high blood pressure. Complications resulting from metabolic syndrome significantly red...

  13. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  14. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  15. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  16. Facts about Down Syndrome

    Science.gov (United States)

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  17. Genetics Home Reference: Duane-radial ray syndrome

    Science.gov (United States)

    ... in particular ethnic groups? Genetic Changes Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part ... WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL ...

  18. Short bowel syndrome

    International Nuclear Information System (INIS)

    This thesis describes some aspects of short bowel syndrome. When approximately 1 m or less small bowel is retained after extensive resection, a condition called short bowel syndrome is present. Since the advent of parenteral nutrition, the prognosis of patients with a very short bowel has dramatically improved. Patients with 40 to 100 cm remaining jejunum and/or ileum can generally be maintained with oral nutrition due to increased absorption of the small bowel remnant as result of intestinal adaptation. This study reports clinical, biochemical and nutritional aspects of short bowel patients on oral or parenteral nutrition, emphasizing data on absorption of various nutrients and on bone metabolism. Furthermore, some technical apsects concerning long-term parenteral nutrition are discussed. (Auth.)

  19. Central Neuropathic Pain Syndromes.

    Science.gov (United States)

    Watson, James C; Sandroni, Paola

    2016-03-01

    Chronic pain is common in patients with neurologic complications of a central nervous system insult such as stroke. The pain is most commonly musculoskeletal or related to obligatory overuse of neurologically unaffected limbs. However, neuropathic pain can result directly from the central nervous system injury. Impaired sensory discrimination can make it challenging to differentiate central neuropathic pain from other pain types or spasticity. Central neuropathic pain may also begin months to years after the injury, further obscuring recognition of its association with a past neurologic injury. This review focuses on unique clinical features that help distinguish central neuropathic pain. The most common clinical central pain syndromes-central poststroke pain, multiple sclerosis-related pain, and spinal cord injury-related pain-are reviewed in detail. Recent progress in understanding of the pathogenesis of central neuropathic pain is reviewed, and pharmacological, surgical, and neuromodulatory treatments of this notoriously difficult to treat pain syndrome are discussed. PMID:26944242

  20. Dementia in Down's syndrome.

    Science.gov (United States)

    Ballard, Clive; Mobley, William; Hardy, John; Williams, Gareth; Corbett, Anne

    2016-05-01

    Down's syndrome is the most common genetic cause of learning difficulties, and individuals with this condition represent the largest group of people with dementia under the age of 50 years. Genetic drivers result in a high frequency of Alzheimer's pathology in these individuals, evident from neuroimaging, biomarker, and neuropathological findings, and a high incidence of cognitive decline and dementia. However, cognitive assessment is challenging, and diagnostic methods have not been fully validated for use in these patients; hence, early diagnosis remains difficult. Evidence regarding the benefits of cholinesterase inhibitors and other therapeutic options to treat or delay progressive cognitive decline or dementia is very scarce. Despite close similarities with late-onset Alzheimer's disease, individuals with Down's syndrome respond differently to treatment, and a targeted approach to drug development is thus necessary. Genetic and preclinical studies offer opportunities for treatment development, and potential therapies have been identified using these approaches. PMID:27302127

  1. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus;

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  2. Prescribing patterns in premenstrual syndrome

    Directory of Open Access Journals (Sweden)

    Jones Paul W

    2002-06-01

    Full Text Available Abstract Background Over 300 therapies have been proposed for premenstrual syndrome. To date there has been only one survey conducted in the UK of PMS treatments prescribed by GPs, a questionnaire-based study by the National Association of Premenstrual Syndrome in 1989. Since then, selective serotonin re-uptake inhibitors have been licensed for severe PMS/PMDD, and governmental recommendations to reduce the dosage of vitamin B6 (the first choice over-the-counter treatment for many women with PMS have been made. This study investigates the annual rates of diagnoses and prescribing patterns for premenstrual syndrome (1993–1998 within a computerised general practitioner database. Methods Retrospective survey of prescribing data for premenstrual syndrome between 1993–1998 using the General Practice Research Database for the West Midlands Region which contains information on 282,600 female patients Results Overall the proportion of women with a prescription-linked diagnosis of premenstrual syndrome has halved over the five years. Progestogens including progesterone were the most commonly recorded treatment for premenstrual syndrome during the whole study period accounting for over 40% of all prescriptions. Selective serotonin-reuptake inhibitors accounted for only 2% of the prescriptions in 1993 but rose to over 16% by 1998, becoming the second most commonly recorded treatment. Vitamin B6 accounted for 22% of the prescriptions in 1993 but dropped markedly between 1997 and 1998 to 11%. Conclusions This study shows a yearly decrease in the number of prescriptions linked to diagnoses for premenstrual syndrome. Progestogens including progesterone, is the most widely prescribed treatment for premenstrual syndrome despite the lack of evidence demonstrating their efficacy.

  3. 羊膜带综合征相关畸形的相关因素、诊断及处理结果分析%Amniotic band syndrome deformity related factors, diagnosis, and treatment results

    Institute of Scientific and Technical Information of China (English)

    梁莉; 黄桂芳; 黄贞; 陆启升

    2013-01-01

    目的 报告2例羊膜带综合征(ABS),对其伴有的复杂畸形进行分析,探讨羊膜带综合征相关畸形的相关因素、诊断及处理结果分析.方法 对2例ABS进行B超影像结果分析,其中1例进行羊膜粘连带及受累组织进行组织学观察.结果 本文1例为严重的不对称的复合性畸形,包括头面部、腹壁及肢体等异常,该病例能找到明确的羊膜带粘连证据,粘连带为纤维结缔组织,可见羊膜上皮、皮肤或头皮-羊膜粘连处为羊膜的中胚层面粘合于表皮下的结缔组织,腹壁缺损缘为羊膜逐渐向皮肤鳞状上皮移行(羊膜-外胚层过渡带).另1例为单纯的脑膜脑膨出畸形,所有病例的B超影像均在羊水中可见到漂浮的带状回声,其部分贴附于胎儿;羊膜带粘连处的胎儿肢体部分可见畸形,畸形部位常可扫查到羊膜的带状回声与之粘连.结论 ABS主要表现为外表面组织器官缺陷;受累组织器官由于其在发生的关键时期,因羊膜囊破裂及羊膜带粘连受到干扰而致畸;畸形的严重程度及范围取决于羊膜囊破裂的时间和部位.ABS重在预防,妊娠中期常规进行超声检查,早期诊断,早期干预.%Objective: To report 2 cases of amniotic band syndrome ( ABS) , its associated with malformation complex analysis, explore the amniotic band syndrome associated malformations associated factors, diagnosis and treatment result analysis. Methods; 2 cases of ABS B ultrasound image analysis of results, which a case of amniotic adhesion bands and the involved tissues for histological observation. Results; In the 1 cases of serious asymmetric composite deformities, including the head and face, abdominal and limb abnormalities , the case can be found clear evidence of amniotic band adhesion, adhesion with fibrous connective tissue, visible amniotic epithelial, skin or scalp - amniotic adhesions as amniotic mesoderm surface bonded to the epidermis under connective tissues

  4. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  5. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  6. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  7. Hormonal and metabolic effects of polyunsaturated fatty acids in young women with polycystic ovary syndrome: results from a cross-sectional analysis and a randomized, placebo-controlled, crossover trial.

    LENUS (Irish Health Repository)

    Phelan, Niamh

    2012-02-01

    BACKGROUND: Polycystic ovary syndrome (PCOS) is characterized by an adverse metabolic profile. Although dietary changes are advocated, optimal nutritional management remains uncertain. Polyunsaturated fatty acids (PUFAs), particularly long-chain (LC) n-3 (omega-3) PUFAs, improve metabolic health, but their therapeutic potential in PCOS is unknown. OBJECTIVES: We aimed to determine the associations between plasma PUFAs and metabolic and hormonal aspects of PCOS to investigate the efficacy of LC n-3 PUFA supplementation and to support the findings with mechanistic cellular studies. DESIGN: We selected a cross-sectional PCOS cohort (n = 104) and conducted a principal component analysis on plasma fatty acid profiles. Effects of LC n-3 PUFA supplementation on fasting and postprandial metabolic and hormonal markers were determined in PCOS subjects (n = 22) by a randomized, crossover, placebo-controlled intervention. Direct effects of n-6 (omega-6) compared with n-3 PUFAs on steroidogenesis were investigated in primary bovine theca cells. RESULTS: Cross-sectional data showed that a greater plasma n-6 PUFA concentration and n-6:n-3 PUFA ratio were associated with higher circulating androgens and that plasma LC n-3 PUFA status was associated with a less atherogenic lipid profile. LC n-3 PUFA supplementation reduced plasma bioavailable testosterone concentrations (P < 0.05), with the greatest reductions in subjects who exhibited greater reductions in plasma n-6:n-3 PUFA ratios. The treatment of bovine theca cells with n-6 rather than with n-3 PUFAs up-regulated androstenedione secretion (P < 0.05). CONCLUSIONS: Cross-sectional data suggest that PUFAs modulated hormonal and lipid profiles and that supplementation with LC n-3 PUFAs improves androgenic profiles in PCOS. In bovine theca cells, arachidonic acid modulated androstenedione secretion, which suggests an indirect effect of n-3 PUFAs through the displacement of or increased competition with n-6 PUFAs. This trial was

  8. [Hepatopulmonary syndrome].

    Science.gov (United States)

    Thévenot, Thierry; Weil, Delphine; Garioud, Armand; Lison, Hortensia; Cadranel, Jean-François; Degano, Bruno

    2016-05-01

    Hepatopulmonary syndrome (HPS) is defined by the association of portal hypertension, increased alveolar-arterial oxygen gradient and intrapulmonary vascular dilations. Pathophysiological mechanisms of hypoxemia are characterized by ventilation-perfusion mismatch, oxygen diffusion limitation between alveolus and the centre of the dilated capillary, and right-to-left shunting. An excess of vasodilator molecules (like nitric monoxide) and proangiogenic factors (like VEGF) play an important role in the occurrence of HPS. Symptoms of HPS are not specific and dominated by a progressive dyspnea in upright position. Pulse oximetry is a simple non-invasive screening test but only detect the most severe forms of HPS. Medical treatment is disappointing and only liver transplantation may lead to resolution of HPS. Survival following liver transplantation is promising when hypoxemia is not severely decreased. PMID:27021476

  9. Antiphospholipid syndrome.

    Science.gov (United States)

    George, Diane; Erkan, Doruk

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune systemic disease that is diagnosed when there is vascular thrombosis and/or pregnancy morbidity occurring with persistently positive antiphospholipid antibodies (aPL) (lupus anticoagulant test, anticardiolipin antibodies, and/or anti-beta(2)-glycoprotein I antibodies). Although International APS Classification Criteria have been formulated to provide a uniform approach to APS research, aPL may cause a spectrum of clinical manifestations, some of which are not included in these criteria. The main aPL-related cardiac manifestations include valve abnormalities (vegetations and/or thickening), myocardial infarction (MI), intracardiac thrombi, and myocardial microthrombosis. In this article, we will review the definition, etiopathogenesis, clinical manifestations, diagnosis, and treatment of aPL-related clinical events with emphasis on cardiac manifestations. PMID:19732604

  10. Vitreomacular traction syndrome

    Institute of Scientific and Technical Information of China (English)

    Shao Lei; Wei Wenbin

    2014-01-01

    Objective This study aimed to review the available literature on vitreomacular traction (VMT) syndrome and propose the future study prospect in this field.Data sources The data used in this review were mainly obtained from articles listed in Medline and Pubmed (1970-2013).The search terms were "vitreomacular traction," "optical coherence tomography," "vitrectomy," and "ocriplasmin."Study selection Articles regarding the pathophysiology,diagnosis,and treatments of VMT were selected and reviewed.Results VMT syndrome is a persistent attachment of vitreous to the macula in eyes with an incomplete posterior vitreous detachment and considered to be an uncommon status which correlated with some other macular disorders.Optical coherence tomography (OCT) can support a new way to examine and classify VMT.Nonoperative and operative intervenes on this disease have been developed recently,especially the intravitreal medical therapy.Conclusions VMT syndrome may be associated with various disorders in the macular region,depending in part on the size and strength of the residual vitreomacular adhesion.Regular OCT monitoring is recommended to detect it.Patients with asymptomatic VMT should be observed for at least 2-3 months; nonoperative treatment with ocriplasmin should be considered when disorders persist; surgery is recommended if VMT-related disease is significant.

  11. Ocular pseudoexfoliation syndrome

    Directory of Open Access Journals (Sweden)

    Đorđević-Jocić Jasmina

    2010-01-01

    Full Text Available Introduction. This study was aimed at providing an update on most recent developments regarding ocular and systemic manifestations and complications, clinical diagnosis and management, and molecular patophysiology of pseudoexfoliation syndrome. Method. Review of recent literature and own clinical and laboratory studies. Results. Pseudoexfoliation syndrome is an age-related disease in which abnormal fibrillar extracellular material is produced and accumulated in many ocular tissues. Recent progress and advances have led to improvements in clinical management by understanding the effects of the pseudoexfoliation process on the ocular tissues, by refining diagnostic criteria and applying new treatment regimes, and by developing preventive strategies to reduce surgical complications. Increasing evidence of systemic associations of cardiovascular, cerebrovascular, abdominal aorta aneurysm can provide better understanding and management of this condition, and new therapeutic goal. The current pathogenesis concept describes psuedoexfoliation syndrome as an elastic microfibrillopathy involving transforming growth factor-b, matrix metalloproteinase oxidative stress. Conclusion. Despite extensive research, the exact chemical composition of exfoliation material remains unknown. The presence of pseudoexfoliation should alert the physician to the increased risks of intraocular surgery, most commonly zonular dehiscence, capsular rupture, and vitreous loss during cataract extraction. Its associated clinical signs are important in the detection and management of glaucoma.

  12. Glucagonoma without glucagonoma syndrome

    Directory of Open Access Journals (Sweden)

    Čolović Radoje

    2010-01-01

    Full Text Available Introduction. Glucagonomas are rare, frequently malignant tumours, arising from the Langerhans' islets of the pancreas. They usually secrete large amounts of glucagon that can cause a characteristic 'glucagonoma syndrome', which includes necrolytic migratory erythema, glucose intolerance or diabetes, weight loss and sometimes, normochromic normocytic anaemia, stomatitis or cheilitis, diarrhoea or other digestive symptoms, thoromboembolism, hepatosplenomegaly, depression or other psychiatric and paraneoplastic symptoms. In certain cases, some or all glucagonoma symptoms may appear late, or even may be completely absent. Case Outline. The authors present a 43-year-old woman in whom an investigation for abdominal pain revealed a tumour of the body of the pancreas. During operation, the tumour of the body of the pancreas extending to the mesentery measuring 85×55×55 mm was excised. Histology and immunohistochemistry showed malignant glucagonoma, with co-expression of somatostatin in about 5% and pancreatic polypeptide in a few tumour cells. The recovery was uneventful. The patient stayed symptom-free with no signs of local recurrence or distant diseases 15 years after surgery. Conclusion. Glucagonoma syndrome may be absent in glucagonoma tumour patients so that in unclear pancreatic tumours the clinician should frequently request the serum hormone level (including glucagon measurement by radioimmunoassay and the pathologist should perform immunohistochemistry investigation. Those two would probably result in discovery of more glucagonomas and other neuroendocrine tumours without characteristic clinical syndromes.

  13. Spontaneous ovarian hyperstimulation syndrome.

    Science.gov (United States)

    Kasum, Miro; Oresković, Slavko; Jezek, Davor

    2013-06-01

    Spontaneous forms of the ovarian hyperstimulation syndrome (sOHSS) are nearly always reported between 8 and 14 weeks of pregnancy and also with follicle-stimulating hormone (FSH) producing pituitary adenoma. The syndrome has been previously reported in rare instances of increased production of human chorionic gonadotrophin (hCG) such as multiple pregnancies, hydatiforme mole, polycystic ovary disease and elevated concentrations of thyroid-stimulating hormone (TSH) in hypothyreoidism. High levels of these hormones are able to stimulate by natural promiscuous activation the wild-type FSHr, resulting in sporadic presentations of the syndrome. Since 2003, only six different activating FSHr gene mutations have been reported in cases of familial or habitual sOHSS. In addition to five mutations which have been found in the transmembrane helices (Asp567Asn, Asp567Gly, Thr449Ile, Thr449Ala, Ile545Thr), the first germline mutation (c.383C > A, p. Ser 128 Tyr) in the extracelullar domain was identified. All five mutants were abnormally activated by TSH and normal levels of hCG while displaying constitutive activity. In contrast to these mutations, the p.Ser128Tyr mutant displayed an increase in sensitivity only toward hCG. Accordingly, the mutated FSHrs, may be hyperstimulated by the pregnancy-derived hCG or TSH, inducing the occurrence of the syndrome. In the differential diagnosis, malignancy, pregnancy luteoma and hyperreactio luteinalis would have to be excluded. In almost all of the cases the disease regresses spontaneously and could be managed expectantly or conservatively, but with termination of pregnancy or surgery in cases of complications. PMID:23941020

  14. Síndrome de Sturge-Weber: relato de caso dos achados da avaliação fonoaudiológica Sturge-Weber syndrome: a case report on the results of the phonoaudiological evaluation

    Directory of Open Access Journals (Sweden)

    Sara Virgínia Paiva Santos

    2010-02-01

    Full Text Available TEMA: avaliação fonoaudiológica em síndrome de rara ocorrência. PROCEDIMENTOS: descrever o desempenho apresentado na avaliação fonoaudiológica clínica de uma paciente com diagnóstico genético de Síndrome de Sturge-Weber. Para isso, utilizou-se de avaliação da motricidade e funções orofaciais, das habilidades pragmática e semântica da linguagem oral, processos perceptuais visual e auditivo, funções cognitivas e aplicação do Denver II. RESULTADOS: na avaliação da motricidade orofacial a paciente apresentou anomalias de estruturas ósseas da face, inadequação quanto à morfologia, mobilidade e tônus de todos os órgãos fonoarticulatórios, presença de reflexos de procura e sucção primitivos. Na avaliação das habilidades pragmática e semântica da linguagem oral, processos perceptuais visual e auditivo, funções cognitivas, a paciente apresentou exploração sensoriomotora, com pouca interação e atenção compartilhada e dificuldade de contato de olhos; comunicação predominantemente gestual, não havendo registros de atos comunicativos verbais. Apresentou funções comunicativas de pedido de ação, exclamativa, exploratória e protesto, e grande uso de função não focalizada. A compreensão oral mostrou-se alterada, gestos representativos esporádicos, processos perceptuais funcionais e lateralidade indefinida. No Denver II, falhou nas áreas pessoal-social, linguagem, motor fino e grosseiro. CONCLUSÃO: a paciente apresentou diagnóstico fonoaudiológico de Distúrbio de Linguagem e Disfagia Neurogênica Orofaríngea moderada sendo necessária intervenção fonoaudiológica a fim de maximizar a comunicação, bem como adequar as estruturas e funções motoras orofaciais.BACKGROUND: phonoaudiological evaluation of rare occurrence syndrome. PROCEDURES: describe the performance shown in phonoaudiological clinical evaluation of a patient with genetic diagnosis of Sturge-Weber Syndrome. Evaluation of the drive

  15. A型肉毒毒素治疗Meige综合征的方法及效果分析%Botulinum toxin type A treatment of Meige syndrome of the method and result analysis

    Institute of Scientific and Technical Information of China (English)

    汪健; 高平峰; 周发明; 席刚明

    2011-01-01

    Objective Discusses botulinum toxin type A treatment of Meige syndrome the method and the effect.Methods 47 patients under the guidance of the EMG needle electrode with a double as the syringe,Spasm sites in patients with botulinum toxin type A intramuscular injection,each injected volume 0.1 ~0.2mi (including botulinum toxin 2.5~5U),number of injection points to 8 points points.According to Cohen,Albert spasm intensity grading evaluation curative effect.Results After the injection,the general 3~4days of effect,the curative effect continued for 3~6 months,the recrudescence duplicate injection was still effective,After the treatment,the patient myospasm intensity obvious drop, the comparison has the extremely significance difference before the treatment (P<0.01).The symptom alleviates and the obvious alleviation completely reaches 89.4% ,around the treatment the curative effect comparison has the extremely significance difference (P<0.01).Adverse reactions are mainly: local edema,bite muscle weakness,ptosis and so on,generally all can recover within two weeks.Conclusions Local injection of botulinum toxin type A treatment of Meige syndrome is a safe and effective and feasible treatment.%目的:探讨A型肉毒毒素治疗Meige综合征的方法及疗效.方法:47例患者在肌电图引导下用兼作注射器的针电极进行,在患者肌痉挛部位用A型肉毒毒素肌肉内注射,每点注射量为0.1~0.2ml(含肉毒毒素2.5~5 U),注射点数为数点~8点.根据Cohen、Albert痉挛强度分级评估疗效.结果:注射后一般3~4天起效,疗效持续3~6个月,复发者重复注射仍有效.治疗后患者肌痉挛强度明显下降,与治疗前比较有极显著性差异(P<0.01);症状完全缓解和明显缓解者达89.4%,治疗前后疗效比较有极显著性差异(P<0.01).不良反应主要有:局部水肿、咬肌无力、眼睑下垂等,一般两周内均能恢复.结论:局部注射A型肉毒毒素治疗Meige综合征为

  16. Papillon-Lefevre syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Subramaniam P

    2008-01-01

    Full Text Available Papillon-Lefevre syndrome is a rare autosomal recessive genetic disorder. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. This is a case report of prosthodontic rehabilitation of a 15-year-old girl with Papillon-Lefevre syndrome.

  17. Addition and Subtraction by Students with Down Syndrome

    Science.gov (United States)

    Herrera, Aurelia Noda; Bruno, Alicia; Gonzalez, Carina; Moreno, Lorenzo; Sanabria, Hilda

    2011-01-01

    We present a research report on addition and subtraction conducted with Down syndrome students between the ages of 12 and 31. We interviewed a group of students with Down syndrome who executed algorithms and solved problems using specific materials and paper and pencil. The results show that students with Down syndrome progress through the same…

  18. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  19. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    PRENATAL TESTS FOR DOWN SYNDROME S HARE W ITH W OMEN PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? ... suggests that you consult your health care provider. PRENATAL TESTS FOR DOWN SYNDROME 256 Volume 50, No. ...

  20. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  1. Gilles de la Tourette syndrome

    Science.gov (United States)

    ... cannot control. The condition is commonly called Tourette syndrome. ... Tourette syndrome ... fewer people have more severe forms of Tourette syndrome. Tourette syndrome is four times as likely to occur ...

  2. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  3. Jugular thrombophlebitis complicating bacterial pharyngitis (Lemierre`s syndrome)

    Energy Technology Data Exchange (ETDEWEB)

    Sena, S.De [Department of Radiology, UMDNJ - Robert Wood Johnson Medical School, One Robert Wood Johnson Place - CN 19, New Brunswick, NJ 08903-0019 (United States); Rosenfeld, D.L. [Department of Radiology, UMDNJ - Robert Wood Johnson Medical School, One Robert Wood Johnson Place - CN 19, New Brunswick, NJ 08903-0019 (United States); Santos, S. [Department of Pediatrics, UMDNJ - Robert Wood Johnson Medical School, One Robert Wood Johnson Place - CN 19, New Brunswick, NJ 08903-0019 (United States); Keller, I. [Department of Radiology, UMDNJ - Robert Wood Johnson Medical School, One Robert Wood Johnson Place - CN 19, New Brunswick, NJ 08903-0019 (United States)

    1996-02-01

    Lemierre`s syndrome is a rare syndrome caused by Fusobacterium necrophorum, a gram-negative anaerobic organism that normally inhabits the oropharynx. The syndrome follows primary oropharyngeal infection and affects previously healthy adolescents in a characteristic manner with fatal results if left untreated. The authors present two cases seen at their institution and discuss the clinical and radiologic features of the syndrome, along with considerations for patient management. (orig.). With 5 figs.

  4. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    OpenAIRE

    Pedro Morgado; Ricardo Ribeiro; Cerqueira, João J

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, pat...

  5. Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood

    OpenAIRE

    Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.

    2012-01-01

    The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome; n = 135) on measures of autism symptoms, adaptive functioning, behavior problems, and psychological symptoms. Results indicated that individuals du...

  6. Munchausen syndrome by proxy abuse: a foundation for adult Munchausen syndrome.

    Science.gov (United States)

    Conway, S P; Pond, M N

    1995-09-01

    Symptoms fabricated by the mother, and abnormal maternal pressurising of medical staff, resulted in misinterpretation of sweat test results and a diagnosis of cystic fibrosis in a two year old child. Her mother refused to accept later medical evidence which irrefutably showed this diagnosis to be wrong. The child was extensively investigated and for most of her childhood was treated for pancreatic malabsorption. She progressed from an innocent child victim of Munchausen Syndrome by Proxy abuse to an accomplice in her mother's deception, and finally to adult Munchausen Syndrome behaviour. Munchausen Syndrome by Proxy abuse may programme a child into developing adult Munchausen Syndrome. PMID:8573056

  7. An Analysis of Syndrome Coding

    Science.gov (United States)

    Amiruzzaman, Md; Abdullah-Al-Wadud, M.; Chung, Yoojin

    In this paper a detail analysis is presented based on BCH syndrome coding for covert channel data hiding methods. The experimented technique is nothing but a syndrome coding algorithm with a coset based approach, analyzed results are showing that the examined method has more flexibility to choose coset, also providing less modification distortion caused by data hiding. Analyzed method presented by clear mathematical way. As it is mathematical equation dependent, hence analyzed results are showing that the analyzed method has fast computation ability and find perfect roots for modification.

  8. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome. PMID:27209717

  9. Mobbing syndrome

    Directory of Open Access Journals (Sweden)

    Sakoula Z.

    2014-07-01

    Full Text Available Introduction: The term mobbing comes from the English word mob, meaning attack, Compass bother. Today is the systematic psychological attack and a strategic marginalization accepted at the workplace from their superiors or colleagues unwanted, for various reasons, employees. The term was used in 1800 by British biology, description of aggressive behavior in flight, certain species of migratory birds. In 1900, ethologist Konrad Lorenz uses it to interpret the hostility of the majority of the herd, compared to lean animals of the same breed. The German psychologist Heinz Leyman, is the first, which is in the 80s, attributes the condition in human society, describing all the negative health effects of mobbing in the workplace as a "syndrome mobbing». Purpose: To work is to illustrate the phenomenon mobbing, which can appear as a problem in the relationship of the perpetrator to the victim, but also implies the presence of such conditions to occur and flourish. Literature Review: searched the literature, internet, Keyword: Work or Employee Abuse, Mistreatment, Emotional Abuse, Bossing, Victimization, Intimidation, Psychological terrorization, Psychological violence. The mobbing syndrome is defined as "repeated abusive behavior, manifested through actions, words, intimidation, acts, gestures, ways of organizing work and have the character or purpose to offend the personality, dignity or physical or mental integrity of the worker in the performance of his work, to jeopardize the employment status or to create a hostile, intimidating, degrading, humiliating or offensive working environment. According to the French psychiatrist Marie France Hirigoyen, the "offender" is a personality that satisfied 'hurting' his fellows and develops self-esteem, conveying to others the "pain" that cannot feel, but also the internal contradictions that refuses edited. Conclusions: the mobbing is the reason for the development of mental and physical diseases as an

  10. Metabolic syndrome in androgenic alopecia

    Directory of Open Access Journals (Sweden)

    Hima Gopinath

    2016-01-01

    Full Text Available Background: Androgenic alopecia has been associated with an increased risk of coronary heart disease in various studies. The relationship between androgenic alopecia and metabolic syndrome, a known risk factor for atherosclerotic cardiovascular disease, is still poorly understood. Aim: To study the association between metabolic syndrome and early-onset androgenic alopecia. Methods: A hospital-based analytical cross-sectional study was done on men in the age group of 18–55 years. Eighty five clinically diagnosed cases with early-onset (<35 years androgenic alopecia of Norwood grade III or above, and 85 controls without androgenic alopecia were included. Data collected included anthropometric measurements, arterial blood pressure and history of chronic diseases. Fasting blood and lipid profile were determined. Metabolic syndrome was diagnosed as per the new International Diabetes Federation criteria. Chi-square and Student's t-test were used for statistical analysis using Statistical Package for the Social Sciences (SPSS version 17.00. Results: Metabolic syndrome was seen in 19 (22.4% patients with androgenic alopecia and 8 (9.4% controls (P = 0.021. Abdominal obesity, hypertension and lowered high-density lipoprotein were significantly higher in patients with androgenic alopecia versus their respective controls. Limitations: The limitations of our study include small sample size in subgroups and the lack of evidence of a temporal relationship between metabolic syndrome and androgenic alopecia. Conclusion: A higher prevalence of metabolic syndrome is seen in men with early-onset androgenic alopecia. Early screening for metabolic syndrome and its components is beneficial in patients with early-onset androgenic alopecia.

  11. Relationship Between Metabolic Syndrome and Prostate Cancer

    Directory of Open Access Journals (Sweden)

    Serkan Bas

    2014-12-01

    Full Text Available Aim: Metabolic syndrome has gained increased attention in the last century after researchers identified its important role in cardiovascular mortality and morbidity in developed countries. Despite limited research into the relationship between metabolic syndrome and prostate cancer (PCa, the precise relationship has not been elucidated due to lack of research into the specific factors associated with PCa. To fill this research gap, we evaluated the incidence of PCa in patients with metabolic syndrome and the relationship between metabolic syndrome and the parameters of PCa. Material and Method: We retrospectively evaluated the biochemical analyses of the serum parameters and pathological reports of 102 PCa patients diagnosed by transrectal ultrasound. After determining the incidence of metabolic syndrome in patients with PCa, we divided the patients into two groups, those with and without a diagnosis of metabolic syndrome. We then compared the serum PSA level, age, total prostate volume, Gleason score, triglyceride (TG level, high-density lipoprotein cholesterol level (HDL-C, blood pressure, and fasting glucose level of the two groups. Results: We included 102 patients with a diagnosis of prostate cancer in the present study. Among the 102 patients, 18 (17.6% were diagnosed with metabolic syndrome. While the PSA levels of the PCa patients were found to be significantly lower in those with metabolic syndrome compared to those without metabolic syndrome (P=0.04, no difference was found between the groups regarding the other components of PCa (P>0.05. Discussion: Serum PSA level was found to be significantly lower in those with metabolic syndrome. This result leads us to consider whether prostate biopsy should be performed in patients with metabolic syndrome who have lower PSA levels than the levels currently specified for biopsy. Further research into the parameters of PCa needs to be conducted to confirm our findings.

  12. 武汉地区2046例孕中期孕妇唐氏综合征筛查的结果分析%Analysis on results of Down's syndrome screening in 2046 pregnant women in second trimester in Wuhan

    Institute of Scientific and Technical Information of China (English)

    吴行飞; 石鑫玮; 赵岚; 段秀娟; 崔天盆; 陈馨; 胡必成; 乔福元

    2013-01-01

    目的 探讨孕妇孕中期唐氏综合征筛查对异常胎儿检出的价值,分析孕妇年龄与唐氏综合征筛查风险度之间的关系.方法 采用化学发光免疫技术定量检测孕中期(14-22周)孕妇血清中的三项指标(AFP、HCG、uE3),通过配套软件估算唐氏综合征、爱德华氏综合征、神经管缺陷的风险度.以35岁为界限将筛查孕妇分为两组,比较它们之间的风险差异.结果 筛查2046例孕妇有179例筛查为高风险,其中唐氏综合征高风险136例、爱德华氏综合征高风险15例、神经管缺陷高风险29例(1例2项指标均为高风险).经过产前诊断并结合回访数据发现179名高风险孕妇中,有唐氏综合征4例,爱德华氏综合征1例,神经管缺陷2例,其他异常染色体2例.经过统计分析,不同年龄组间的唐氏综合征筛查高风险率有显著性差异.结论 孕中期血清唐氏综合征筛查是预防胎儿出生缺陷的有效检测方法.高龄孕妇的逐步增多加大了患儿产生的风险,这应引起相关部门的重视,也是优生优育工作面临的新问题.%Objective:To explore the value of Down's syndrome screening in second trimester for detecting the abnormal fetuses and analyze the relationship between the maternal age and the risk for Down's syndrome screening.Methods:The study detected the concentration of AFP,HCG and uE3 in serum of pregnant women in second trimester (gestational week:14-22) by chemiluminescence assay; estimated the risk of Down's syndrome,Edward's syndrome and neural tube defect by software.The cases were divided into two groups according to the age; and the risks in the two groups were compared.Results:Among 2046 cases,there were 179 cases with high risk for screening (136 cases with high risk for Down syndrome,15 cases with high risk for Edward's syndrome,29 cases with high risk for neural tube defect).The results of prenatal diagnosis showed that there were 4 cases with Down syndrome,1 case with

  13. EEG findings in fetal alcohol syndrome and Down syndrome children.

    Science.gov (United States)

    Kaneko, W M; Phillips, E L; Riley, E P; Ehlers, C L

    1996-01-01

    Results from previous studies evaluating the electroencephalograms (EEGs) of infants born to alcoholic mothers suggest that the neonatal EEG may be a sensitive measure of prenatal ethanol exposure. Few studies, however, have examined EEG records of adolescent children with fetal alcohol syndrome (FAS). The present study investigated the resting EEG recordings of 18 matched triads of FAS, Down syndrome, and normal control subjects. Significant reductions in mean power of the alpha frequencies (7.5-12 Hz) were seen for both clinical groups, however, each syndrome appeared to have distinct EEG spectral distributions. Down syndrome children overall had diffuse EEG slowing while the EEG records of the FAS children showed reduced power, particularly in the alpha frequencies in the absence of significant slow activity. In the Down syndrome children, significant decreases in alpha power was seen in posterior cortical regions, whereas FAS children were more affected in the left hemisphere. This study suggests that certain EEG variables may be helpful in characterizing the neurophysiology of FAS. PMID:8689990

  14. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  15. Tourette syndrome.

    Science.gov (United States)

    Cavanna, Andrea E; Termine, Cristiano

    2012-01-01

    Tourette syndrome (TS) is a neurodevelopmental disorder consisting of multiple motor and one or more vocal/phonic tics. TS is increasingly recognized as a common neuropsychiatric disorder usually diagnosed in early childhood and comorbid neuropsychiatric disorders occur in approximately 90% of patients, with attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) being the most common ones. Moreover, a high prevalence of depression and personality disorders has been reported. Although the mainstream of tic management is represented by pharmacotherapy, different kinds of psychotherapy, along with neurosurgical interventions (especially deep brain stimulation, DBS) play a major role in the treatment of TS. The current diagnostic systems have dictated that TS is a unitary condition. However, recent studies have demonstrated that there may be more than one TS phenotype. In conclusion, it appears that TS probably should no longer be considered merely a motor disorder and, most importantly, that TS is no longer a unitary condition, as it was previously thought. PMID:22411257

  16. Leigh syndrome

    International Nuclear Information System (INIS)

    A male infant developed hypotonia at 5 months, vomiting, diarrhea, fever, generalized clonic convulsion, tonic spasm and periodical opisthotonus at 8 months, swallowing difficulty at 10 months, pes equinovarus and optic atrophy at 11 months, and then tachypnea, and died at 14 months of age. Parents were consanguinous. Laboratory studies revealed elevated serum LDH, CPK, lactate and Pyruvate. TPP-ATP phosphoryl transferase inhibitor was negative in urine. EEG showed irregular and diffuse slow waves and periodic diffuse spike and waves. CT scan at 9 months of age showed slightly low attenuation areas in the putamen bilaterally. At 11 months, a diffuse cerebral atrophy was found, and the low attenuation of the basal ganglia became more definite. No enhanced lesion was seen at 13 months of age. Thiamine tetra-hydrofurfuryl disulfide and lipoic acid were tried without success. The pathological findings of the brain were astrogliosis and proliferation of capillaries in putamen, thalamus, caudate neucleus, substantia nigra, pontine brachium and cerebral cortex, which were symmetrically involved. The symmetrical cavitation was found in putamen. Optic nerve and mamillary body were spared. CT scan findings corresponded well with the pathology of the necrotic lesions of the brain. It was concluded that these CT scan pictures described above may be diagnostic of Leigh syndrome. (author)

  17. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    S Manjima

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  18. Trigeminal trophic syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    Sunil N Mishra

    2011-01-01

    Full Text Available Trigeminal trophic syndrome is a rare condition resulting from self-manipulation of the skin after a peripheral or central injury to the trigeminal system. The syndrome consists of a classic triad of anaesthesia, paraesthesia, and a secondary persistent or recurrent facial ulceration. We describe a 60 year-old woman who developed this syndrome as a sequel to the gasserian ganglion block for trigeminal neuralgia. She had also developed melasma within 1 year. A remarkable benefit was achieved by proper patient education and topical antibiotics which led to the healing of all ulcerations within 4 weeks. In the case reported here, the diagnosis of the trigeminal trophic syndrome was made primarily as a result of the physician′s experience with the syndrome previously.

  19. [The autonomic regulation of the cardiovascular system in subjects with the autonomic dystonia syndrome subjected to ionizing radiation exposure as a result of the accident at the Chernobyl Atomic Electric Power Station].

    Science.gov (United States)

    Niagu, A I; Zazimko, R N

    1995-01-01

    180 males in the age of 21-50, all the participants of Chernobyl accident consequences liquidation were examined. In all individuals vegetative dystonia (VD) syndrome was diagnosed (total radiation doses 0.1-1.0 Grey according to D. Erwin method). It was established that VD syndrome differed in these persons by pronounced stages of disorders manifestation as well as by polymorphism of vegetative disturbances. These findings testify central and peripheral vegetative nervous system parts involvement. In 40.2% of cases in individuals which were examined in rest and in 56.2% after dosed physical loading the functional disorders of vegetative cardiovascular system regulation of vagal type mainly (76.5%) were revealed. Clear correlation was not observed between vegetative disorders and radiation dose value. The estimation of contribution of each of the possible pathogenic factors (exactly stressogenic, radioactive and others) in vegetative disturbances development is not possible now. PMID:8533503

  20. Volume -controlled peritoneal drainage for acute ascites resulted abdominal compartment syndrome%控制引流治疗腹腔积液继发腹腔间隙综合征

    Institute of Scientific and Technical Information of China (English)

    梁玉坚; 黄慧敏; 徐玲玲; 张丽丹; 李素萍; 唐雯

    2014-01-01

    目的:观察腹腔置管持续控制引流治疗急性腹腔积液所致儿童腹腔间隙综合征( abdominal compartment syndrome , ACS)的临床疗效。方法回顾性分析2011-05~2013-05收住中山大学附属第一医院PICU的12例急性腹腔积液所致儿童ACS采用腹腔持续置管控制性引流治疗的患儿,并与8例未能接受引流的急性腹腔积液所致儿童ACS病例进行对比。结果12例急性腹腔积液继发ACS 患儿中,病因为腹腔肿瘤破裂出血7例(7/12),肝肾移植术后3例(3/12),尿瘘致尿性腹水2例(2/12)。引流组在治疗前的腹腔压力、脏器受累数量及危重病评分与未引流组比较差异无统计学意义。在ACS患儿中,呼吸道及胃肠道为受累最多的器官,腹腔压力越高,脏器损害数量及病死率越高。引流组较未引流组死亡率明显降低(引流3/12 vs未引流8/8,P<0.001)。腹腔置管引流偶有发生腹腔感染和电解质紊乱的并发症。结论腹腔置管持续控制性引流是一个微创、高效而安全的治疗急性腹腔积液继发ACS的方法,能有效降低IAP,减少脏器损害的发生,大大降低了死亡率,为原发病的救治争取更多的时间。%Objective Intra -abdominal hypertension ( IAH ) has been identified as an independent risk factor for death .The primary goal of this study was to observe the effect of continuous volume -controlled percutaneous catheter drainage ( PCD ) for acute ascites resulted abdominal compartment syndrome ( ACS) .Methods We retrospectively analyzed the treatment effect of volume -controlled PCD in 12 patients with acute ascites resulted ACS from May 2011 to May 2013 in PICU. Eight patients who were treated without PCD were compared .Results Of these 12 enrolled children , 7 cases (7/12) were abdominal tumor rupture, 3 cases (3/12) were post -operation of liver or kidney transplantation and 2 cases ( 2/12 ) were urinary fistula

  1. Deferasirox treatment of iron-overloaded chelation-naïve and prechelated patients with myelodysplastic syndromes in medical practice: results from the observational studies eXtend and eXjange

    OpenAIRE

    Gattermann, Norbert; Jarisch, Andrea; Schlag, Rudolf; Blumenstengel, Klaus; Goebeler, Mariele; Groschek, Matthias; Losem, Christoph; Procaccianti, Maria; Junkes, Alexia; Leismann, Oliver; Germing, Ulrich

    2012-01-01

    EXtend and eXjange were prospective, 1-yr, non-interventional, observational, multicentre studies that investigated deferasirox, a once-daily oral iron chelator, in iron-overloaded chelation-naïve and prechelated patients with myelodysplastic syndromes (MDS), respectively, treated in the daily-routine setting of office-based physicians. No inclusion or exclusion criteria or additional monitoring procedures were applied. Deferasirox was administered as recommended in the European Summary of Pr...

  2. A single immunization with a rhabdovirus-based vector expressing severe acute respiratory syndrome coronavirus (SARS-CoV) S protein results in the production of high levels of SARS-CoV-neutralizing antibodies

    OpenAIRE

    Faber, Milosz; Lamirande, Elaine W.; Roberts, Anjeanette; Rice, Amy B.; Koprowski, Hilary; Dietzschold, Bernhard; Schnell, Matthias J.

    2005-01-01

    Foreign viral proteins expressed by rabies virus (RV) have been shown to induce potent humoral and cellular immune responses in immunized animals. In addition, highly attenuated and, therefore, very safe RV-based vectors have been constructed. Here, an RV-based vaccine vehicle was utilized as a novel vaccine against severe acute respiratory syndrome coronavirus (SARS-CoV). For this approach, the SARS-CoV nucleocapsid protein (N) or envelope spike protein (S) genes were cloned between the RV g...

  3. Brachial Artery Constriction during Brachial Artery Reactivity Testing Predicts Major Adverse Clinical Outcomes in Women with Suspected Myocardial Ischemia: Results from the NHLBI-Sponsored Women’s Ischemia Syndrome Evaluation (WISE) Study

    OpenAIRE

    Sedlak, Tara L.; Johnson, B. Delia; Pepine, Carl J.; Reis, Steven E.; Bairey Merz, C. Noel

    2013-01-01

    Background Limited brachial artery (BA) flow-mediated dilation during brachial artery reactivity testing (BART) has been linked to increased cardiovascular risk. We report on the phenomenon of BA constriction (BAC) following hyperemia. Objectives To determine whether BAC predicts adverse CV outcomes and/or mortality in the women’s ischemic Syndrome Evaluation Study (WISE). Further, as a secondary objective we sought to determine the risk factors associated with BAC. Methods We performed BART ...

  4. Avocado consumption is associated with better diet quality and nutrient intake, and lower metabolic syndrome risk in US adults: results from the National Health and Nutrition Examination Survey (NHANES) 2001–2008

    OpenAIRE

    Fulgoni Victor L; Dreher Mark; Davenport Adrienne J

    2013-01-01

    Abstract Background Avocados contain monounsaturated fatty acids (MUFA) dietary fiber, essential nutrients and phytochemicals. However, no epidemiologic data exist on their effects on diet quality, weight management and other metabolic disease risk factors. The objective of this research was to investigate the relationships between avocado consumption and overall diet quality, energy and nutrient intakes, physiological indicators of health, and risk of metabolic syndrome. Methods Avocado cons...

  5. Wilkie's Syndrome or Superior Mesenteric Artery Syndrome: Fact or Fantasy?

    Science.gov (United States)

    Zaraket, Vera; Deeb, Liliane

    2015-01-01

    Superior mesenteric artery (SMA) syndrome (known as Wilkie's syndrome) is a rare cause of upper gastrointestinal obstruction. It is an acquired disorder in which acute angulation of the SMA causes compression of the third part of the duodenum between the SMA and the aorta. This is commonly due to loss of fatty tissue as a result of a variety of debilitating conditions. We report a 17-year-old female who presented with intermittent abdominal pain and intractable vomiting following significant weight loss after hospitalization for pneumonia. Symptoms persisted for 2 years and the patient underwent extensive invasive and non-invasive tests, but to no avail. Thereafter she developed acute high intestinal obstruction, which unraveled her diagnosis. This case emphasizes the challenges in the diagnosis of SMA syndrome and the need for increased awareness of this entity. This will improve early recognition in order to reduce irrelevant tests and unnecessary treatments. PMID:26120301

  6. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  7. Androgen insensitivity syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001180.htm Androgen insensitivity syndrome To use the sharing features on this page, please enable JavaScript. Androgen insensitivity syndrome (AIS) is when a person who ...

  8. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of type 2 diabetes . It involves extremely high blood ... Diabetic hyperglycemic hyperosmolar syndrome is a condition of: Extremely high blood sugar (glucose) level Extreme lack of ...

  9. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  10. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Website What’s in Your State? For Families: Find Rett syndrome related resources in your state! State Resources Rettsyndrome.org is the world's leading Rett syndrome research funding organization We have invested $38 million ...

  11. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Rett syndrome? Skip sharing on social media links Share this: ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  12. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  13. Moebius Syndrome Foundation

    Science.gov (United States)

    ... FRAME video on Moebius syndrome The Moebius Syndrome Foundation is excited to announce the premiere of the FRAME video, produced by Rick Guidotti and his non-profit organization, Positive Exposure! FRAME is a web-based ...

  14. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  15. Green Nail Syndrome

    Science.gov (United States)

    ... Favorite Name: Category: Share: Yes No, Keep Private Green Nail Syndrome Share | Green nail syndrome (GNS) is an infection of the ... discoloration of nails, also known as chloronychia. The green discoloration varies from blue-green to dark green ...

  16. Sick sinus syndrome

    Science.gov (United States)

    ... chambers is a common cause of sick sinus syndrome. Coronary artery disease , high blood pressure, and aortic and ... pressure may be normal or low. Sick sinus syndrome may cause symptoms of heart failure to start or get worse. Sick sinus ...

  17. Carpal tunnel syndrome

    Science.gov (United States)

    Median nerve dysfunction; Median nerve entrapment ... Calandruccio JH. Carpal tunnel syndrome, ulnar tunnel syndrome, and stenosing tenosynovitis. In: Canale ST, Beaty JH, eds. Campbell's Operative Orthopaedics . 12th ed. Philadelphia, PA: Elsevier Mosby; 2013: ...

  18. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  19. Abdominal Pain Syndrome

    Science.gov (United States)

    ... inspection of a drop of urine), and urine culture for bacterial infection. Stools can be analyzed for ... Hepatitis C Inflammatory Bowel Disease Irritable Bowel Syndrome Obesity Digestive Health Topics Abdominal Pain Syndrome Belching, Bloating, ...

  20. Ovarian hyperstimulation syndrome

    Science.gov (United States)

    Ovarian hyperstimulation syndrome (OHSS) is a problem that is sometimes seen in women who take fertility medicines ... the belly and chest area. This is called ovarian hyperstimulation syndrome (OHSS). OHSS occurs only after the ...

  1. What is Down Syndrome?

    Science.gov (United States)

    ... Syndrome/Down-Syndrome-Facts/ [top] What are common symptoms? » ​​ Last Reviewed: 01/17/2014 Related A-Z Topics Autism Spectrum Disorder (ASD) Early Learning Intellectual and Developmental Disabilities (IDDs) All related ...

  2. Rubinstein-Taybi syndrome

    Science.gov (United States)

    Rubinstein syndrome, RTS ... Rubinstein-Taybi Parents Group USA: www.rubinstein-taybi.org ... Philadelphia, PA: Elsevier; 2016:chap 14. Stevens CA. Rubinstein-Taybi syndrome. Gene Reviews. 2014;8. PMID: 20301699 ...

  3. Munchausen syndrome by proxy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001555.htm Munchausen syndrome by proxy To use the sharing features on this page, please enable JavaScript. Munchausen syndrome by proxy is a mental illness and a form of ...

  4. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  5. Antiphospholipid Antibody Syndrome

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Antiphospholipid Antibody Syndrome? Antiphospholipid (AN-te-fos-fo-LIP-id) antibody ... weeks or months. This condition is called catastrophic antiphospholipid syndrome (CAPS). People who have APS also are at ...

  6. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Dictionary of Medical Words En Español What Other Kids Are Reading Movie: Digestive System Winter Sports: Sledding, ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  7. Down Syndrome: Education

    Science.gov (United States)

    ... Kit Financials Newsroom Shop NDSS Home » Resources » Education Education This section includes information about inclusion, elementary and ... and postsecondary options for students with Down syndrome. Education & Down Syndrome This section provides an overview and ...

  8. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

    ... this page: About CDC.gov . Hantavirus Share Compartir Hantavirus Pulmonary Syndrome (HPS) Severe HPS. Image courtesy D. ... the workers showed evidence of infection or illness. Hantavirus Pulmonary Syndrome (HPS) Topics Transmission Where HPS is ...

  9. Compartment syndrome without pain!

    LENUS (Irish Health Repository)

    O'Sullivan, M J

    2012-02-03

    We report the case of a young male patient who underwent intra-medullary nailing for a closed, displaced mid-shaft fracture of tibia and fibula. He was commenced on patient controlled analgesia post-operatively. A diagnosis of compartment syndrome in the patient\\'s leg was delayed because he did not exhibit a pain response. This ultimately resulted in a below-knee amputation of the patient\\'s leg. We caution against the use of patient controlled analgesia in any traumatised limb distal to the hip or the shoulder.

  10. Floppy eyelid syndrome: review

    Directory of Open Access Journals (Sweden)

    Cristina Miyamoto

    2011-02-01

    Full Text Available Floppy eyelid syndrome is characterized by the easy evertion of the upper eyelid which occurs spontaneously during the sleep, causing the exposure of the eye surface and chronic papillary conjunctivitis. Its pathogenesis is not totally defined yet: it is usually more frequent in middle-aged, male obese patients and it is associated with systemic disorders such as obstructive sleep apnea, high blood pressure and diabetes. On the occasions which conservative treatment fails, surgical procedures present good results, including surgical techniques which are constantly evolving.

  11. Burning mouth syndrome

    Directory of Open Access Journals (Sweden)

    Sudha Jimson

    2015-01-01

    Full Text Available Burning mouth syndrome (BMS is a complex disorder that is characterized by warm or burning sensation in the oral mucosa without changes on physical examination. It occurs more commonly in middle-aged and elderly women and often affects the tip of the tongue, lateral borders, lips, hard and soft palate. This condition is probably of multi-factorial origin, often idiopathic, and its etiopathogensis is unknown. BMS can be classified into two clinical forms namely primary and secondary BMS. As a result, a multidisciplinary approach is required for better control of the symptoms. In addition, psychotherapy and behavioral feedback may also help eliminate the BMS symptoms.

  12. [Diogenes syndrome: a transnosographic approach].

    Science.gov (United States)

    Hanon, C; Pinquier, C; Gaddour, N; Saïd, S; Mathis, D; Pellerin, J

    2004-01-01

    Diogenes syndrome is a behavioural disorder of the elderly. Symptoms include living in extreme squalor, a neglected physical state and unhygienic conditions. This is accompanied by a self-imposed isolation, the refusal of external help and a tendency to accumulate heteroclite objects. This particular geriatric syndrome has been described for the first time only quite recently, as the 2 primary descriptions by geriatricians and psychiatrists date from 1966 and 1975 respectively. Its rare occurrence contrasts with the fact that it is well-known, partly due to it being named after the Greek philosopher "Diogene de Sinope", who taught cynicism philosophy and a return to a natural way of life, and partly because of its rare characteristics. The Diogenes syndrome is a fascinating object of study for the clinician who takes care of patients living in uncommon conditions, on the edge of society and unaware of the particularity of their lifestyles. Patients suffering from Diogenes syndrome are usually discovered by chance, either because of a somatic illness, or as a result of social intervention related to their behavioural problems. Management of the syndrome is difficult and ethically challenging, as the patient does not seek help. Moreover, 46% of patients have a 5 year mortality rate. Hospitalisation has to be avoided whenever possible and ambulatory treatment and social measures should be favoured. Psychotropic treatment prescription may be necessary, depending on clinical features and the possible underlying psychiatric disease. Although several clinical hypotheses have been suggested, the true ethiopathogeny of the syndrome remains unclear. Most authors agree that this behaviour does not reflect free will and has consequently no theoretical relationship to the Greek philosopher. There is no true consensus about diagnostic criteria. They include the main features of the syndrome and exclude known psychiatric syndromes. Clark and Mankikar, who named this syndrome

  13. Metabolic Syndrome and Migraine

    OpenAIRE

    Sachdev, Amit; Marmura, Michael J.

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, ...

  14. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  15. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Priori Silvia G

    2006-09-01

    Full Text Available Abstract A novel clinical entity characterized by ST segment elevation in right precordial leads (V1 to V3, incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described by Brugada et al. in 1992. This disease is now frequently called "Brugada syndrome" (BrS. The prevalence of BrS in the general population is unknown. The suggested prevalence ranges from 5/1,000 (Caucasians to 14/1,000 (Japanese. Syncope, typically occurring at rest or during sleep (in individuals in their third or fourth decades of life is a common presentation of BrS. In some cases, tachycardia does not terminate spontaneously and it may degenerate into ventricular fibrillation and lead to sudden death. Both sporadic and familial cases have been reported and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of the implantable cardioverter defibrillator (ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identification of high-risk subjects is one of the major goals in the clinical decision-making process. Quinidine may be regarded as an adjunctive therapy for patients at higher risk and may reduce the number of cases of ICD shock in patients with multiple recurrences.

  16. CONSTIPATION IN RETT SYNDROME

    Science.gov (United States)

    Gastrointestinal problems occur frequently in girls with Rett syndrome. Constipation is a common problem in girls with Rett syndrome because of their neurological abnormalities. Research studies to better understand the abnormalities of large bowel function in our girls with Rett syndrome have not b...

  17. What Is Usher Syndrome?

    Science.gov (United States)

    ... into electrical impulses that transfer messages to the brain. How is Usher syndrome inherited? Usher syndrome is ... required for the child to be affected. A person with only one copy of the gene is a ... in deafness and deaf-blindness, but are not related to Usher syndrome. ...

  18. Stiff skin syndrome.

    Science.gov (United States)

    Geng, S; Lei, X; Toyohara, J P; Zhan, P; Wang, J; Tan, S

    2006-07-01

    Stiff skin syndrome is a rare disorder characterized by pronounced skin induration, mild hypertrichosis and limited joint mobility, predominantly on the buttocks and thighs. Many heterogeneous cases have been reported under the name of stiff skin syndrome. We present a case of stiff skin syndrome from China, the diagnosis based on the patient's typical clinical and histopathological features. PMID:16836505

  19. Munchausen syndrome by proxy

    Science.gov (United States)

    Munchausen syndrome by proxy is a mental illness and a form of child abuse . The caretaker of ... No one is sure what causes Munchausen syndrome by proxy. Sometimes, the person was abused as a child or has Munchausen syndrome (fake illness for themselves).

  20. Fragile X Syndrome Overview

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Overview Skip sharing on social media links Share ... menu on the left. ​ Common Name Fragile X syndrome or Fragile X Medical or Scientific Names Martin-Bell syndrome Last ...

  1. Melatonin in Chronic Pain Syndromes.

    Science.gov (United States)

    Danilov, Andrei; Kurganova, Julia

    2016-06-01

    Melatonin is a neurohormone secreted by epiphysis and extrapineal structures. It performs several functions including chronobiotic, antioxidant, oncostatic, immune modulating, normothermal, and anxiolytic functions. Melatonin affects the cardiovascular system and gastrointestinal tract, participates in reproduction and metabolism, and body mass regulation. Moreover, recent studies have demonstrated melatonin efficacy in relation to pain syndromes. The present paper reviews the studies on melatonin use in fibromyalgia, headaches, irritable bowel syndrome, chronic back pain, and rheumatoid arthritis. The paper discusses the possible mechanisms of melatonin analgesic properties. On one hand, circadian rhythms normalization results in sleep improvement, which is inevitably disordered in chronic pain syndromes, and activation of melatonin adaptive capabilities. On the other hand, there is evidence of melatonin-independent analgesic effect involving melatonin receptors and several neurotransmitter systems. PMID:26984272

  2. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  3. Vocal Polyps in Tourette Syndrome

    Directory of Open Access Journals (Sweden)

    Michael P Chu

    2011-10-01

    Full Text Available Hoarseness and dysphonia are often a result of vocal cord polyps which in turn, are linked to vocal trauma. We report the case of vocal polyps in the setting of a 27-year old male with a history only remarkable for Tourette syndrome. We review the literature regarding etiology and pathophysiology of vocal cord lesions and propose vocal tics in Tourette syndrome as an under-recognized etiology. In this way, we also review therapies that may aid in treating not only the vocal cord lesions but also particularly in the setting of vocal tics.

  4. Vocal Polyps in Tourette Syndrome

    OpenAIRE

    Chu, Michael P.; Karen PM Chu; Kevin Fung

    2011-01-01

    Hoarseness and dysphonia are often a result of vocal cord polyps which in turn, are linked to vocal trauma. We report the case of vocal polyps in the setting of a 27-year old male with a history only remarkable for Tourette syndrome. We review the literature regarding etiology and pathophysiology of vocal cord lesions and propose vocal tics in Tourette syndrome as an under-recognized etiology. In this way, we also review therapies that may aid in treating not only the vocal cord lesions but a...

  5. Syndromic diarrhea/Tricho-hepato-enteric syndrome

    Directory of Open Access Journals (Sweden)

    Fabre Alexandre

    2013-01-01

    Full Text Available Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. Abstract in French Les diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE sont un syndrome rare et sévère dont l’incidence est estimée à 1 cas pour 1 million de naissances et la

  6. Syndromic diarrhea/Tricho-hepato-enteric syndrome

    Science.gov (United States)

    2013-01-01

    Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases. Abstract in French Les diarrhées syndromiques ou syndrome tricho-hepato-enterique (SD/THE) sont un syndrome rare et sévère dont l’incidence est estimée à 1 cas pour 1 million de naissances et la transmission

  7. CANDLE syndrome: a recently described autoinflammatory syndrome.

    Science.gov (United States)

    Tüfekçi, Özlem; Bengoa, ŞebnemYilmaz; Karapinar, Tuba Hilkay; Ataseven, Eda Büke; İrken, Gülersu; Ören, Hale

    2015-05-01

    CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is a recently described autoinflammatory syndrome characterized by early onset, recurrent fever, skin lesions, and multisystemic inflammatory manifestations. Most of the patients have been shown to have mutation in PSMB8 gene. Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, joint contractures, hypertrglyceridemia, lipodystrophy, and autoimmune hemolytic anemia. Clinical features together with the skin biopsy findings were consistent with the CANDLE syndrome. The pathogenesis and treatment of this syndrome have not been fully understood. Increased awareness of this recently described syndrome may lead to recognition of new cases and better understanding of its pathogenesis which in turn may help for development of an effective treatment. PMID:25036278

  8. Neuropsychological sequelae of postradiation somnolence syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Berg, R.A.; Ch' ien, L.T.; Lancaster, W.; Williams, S.; Cummins, J.

    1983-06-01

    Postirradiation somnolence syndrome in children with acute lymphocytic leukemia treated with cranial irradiation has been identified as a possible precursor of later cognitive dysfunction. To test this, the neuropsychological evaluation of 48 children who developed somnolence syndrome was compared with that of 31 children who did not have the syndrome at approximately 1 1/2 and 3 3/4 years after treatment. No differences in performance between the two groups were found on many measures of neuropsychological functioning with the exception of fine motor speed. Children without somnolence syndrome scored somewhat less than normal on measures of academic achievement. No other differences from normal performance were noted in either group. The results of the study indicated that if children with somnolence are at greater risk for the development of cognitive dysfunction than those not manifesting the syndrome, such risks occur at a time farther from treatment than 3 to 4 years.

  9. Molecular diagnosis of Down ' s syndrome

    Institute of Scientific and Technical Information of China (English)

    王树玉; 贾婵维; 任国庆; 马延敏; 吕巍; 丁锋; 韩健

    2003-01-01

    Objective To establish a new diagnostic method for Down ' s syndrome using polymerase chain reaction (PCR).Methods DNA extracted from five healthy individuals and five Down ' s syndrome patients was amplified in six specific tetranucleotide repeat loci on chromosome 21 using PCR. An accurate diagnosis was made by analyzing allelic distribution at each locus. Results All Down ' s syndrome patients were identified as having at least two loci with three alleles, while none of the healthy individuals had three alleles. In addition, when two alleles were identified for a particular locus in the Down ' s syndrome samples, it was more likely that the intensity ratio between the two alleles was close to 2∶ 1.Conclusion The molecular method can provide a fast, accurate, and economical alternation for the traditional cytogenetic diagnostic method for Down ' s syndrome.

  10. Mapping the x-linked lymphoproliferative syndrome

    International Nuclear Information System (INIS)

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

  11. Mapping the x-linked lymphoproliferative syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-04-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

  12. [Involvement of eating disorders in metabolic syndrome].

    Science.gov (United States)

    Suzuki, Mari Hotta

    2015-04-01

    This article gives an outline about involvement of eating disorders in metabolic syndrome. Anorexia nervosa and bulimia nervosa become common diseases in woman in Japan. Binge-eating disorder and night eating syndrome are observed in men as well as women. Binge eating is characteristic of bulimia nervosa, binge-eating disorder and night eating syndrome. It should be noted that high energy availability observed in these diseases results in obesity and exacerbate metabolic syndrome. Cognitive-behavioral therapy and medication with selective serotonin reuptake inhibitors(SSRIs) can make patients to control symptoms and improve their QOL. Osteoporosis is one of chief complications and sequelae of anorexia nervosa. Low-birth weight babies born from emaciated patients with eating disorders are subject to metabolic syndrome in the future. PMID:25936153

  13. Neuropsychological sequelae of postradiation somnolence syndrome

    International Nuclear Information System (INIS)

    Postirradiation somnolence syndrome in children with acute lymphocytic leukemia treated with cranial irradiation has been identified as a possible precursor of later cognitive dysfunction. To test this, the neuropsychological evaluation of 48 children who developed somnolence syndrome was compared with that of 31 children who did not have the syndrome at approximately 1 1/2 and 3 3/4 years after treatment. No differences in performance between the two groups were found on many measures of neuropsychological functioning with the exception of fine motor speed. Children without somnolence syndrome scored somewhat less than normal on measures of academic achievement. No other differences from normal performance were noted in either group. The results of the study indicated that if children with somnolence are at greater risk for the development of cognitive dysfunction than those not manifesting the syndrome, such risks occur at a time farther from treatment than 3 to 4 years

  14. CUBOID SYNDROME: A REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    Stephen M. Patterson

    2006-12-01

    Full Text Available The purpose of this review was to inform all medical health care professionals about cuboid syndrome, which has been described as difficult to recognize and is commonly misdiagnosed, by explaining the etiology of this syndrome, its clinical diagnosis in relation to differential diagnoses, commonly administered treatment techniques, and patient outcomes. A comprehensive review of the relevant literature was conducted with MEDLINE, EBSCO, and PubMed (1960 - Present using the key words cuboid, cuboid syndrome, foot anatomy, tarsal bones, manual therapy, and manipulation. Medical professionals must be aware that any lateral foot and ankle pain may be the result of cuboid syndrome. Once properly diagnosed, cuboid syndrome responds exceptionally well to conservative treatment involving specific cuboid manipulation techniques. Other methods of conservative treatment including therapeutic modalities, therapeutic exercises, padding, and low dye taping techniques are used as adjuncts in the treatment of this syndrome. Immediately after the manipulation is performed, the patient may note a decrease or a complete cessation of their symptoms. Occasionally, if the patient has had symptoms for a longer duration, several manipulations may be warranted throughout the course of time. Due to the fact radiographic imaging is of little value, the diagnosis is largely based on the patient's history and a collection of signs and symptoms associated with the condition. Additionally, an understanding of the etiology behind this syndrome is essential, aiding the clinician in the diagnosis and treatment of this syndrome. After the correct diagnosis is made and a proper treatment regimen is utilized, the prognosis is excellent

  15. Genetics Home Reference: Horner syndrome

    Science.gov (United States)

    ... of congenital Horner syndrome result from damage to nerves called the cervical sympathetics. These nerves belong to the part of ... is under the control of the cervical sympathetic nerves. Damage to the cervical sympathetic nerves can be caused by a direct ...

  16. Overweight in polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Ravn, P; Haugen, A G; Glintborg, D

    2013-01-01

    Aim: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in premenopausal women affecting 5-10%. Nearly 50% are overweight or obese, which result in a more severe phenotype of PCOS. Weight loss is therefore considered the first line treatment in overweight women with PCOS...

  17. GENDER AND STUDENT BURNOUT SYNDROME

    OpenAIRE

    Cecilia López-Pozos

    2014-01-01

    This article is about the influence of postmodernism on development of the burnout syndrome academic, manifested in various symptomatologies involved in the academic performance of the female gender. Research is quantitative and the results give us guideline to prevent the discomforts and school failure.

  18. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  19. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Goldman Michel

    2007-09-01

    Full Text Available Abstract Hypereosinophilic syndromes (HES constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 × 109/L for more than six consecutive months associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders have been excluded. Prevalence is unknown. HES occur most frequently in young to middle-aged patients, but may concern any age group. Male predominance (4–9:1 ratio has been reported in historic series but this is likely to reflect the quasi-exclusive male distribution of a sporadic hematopoietic stem cell mutation found in a recently characterized disease variant. Target-organ damage mediated by eosinophils is highly variable among patients, with involvement of skin, heart, lungs, and central and peripheral nervous systems in more than 50% of cases. Other frequently observed complications include hepato- and/or splenomegaly, eosinophilic gastroenteritis, and coagulation disorders. Recent advances in underlying pathogenesis have established that hypereosinophilia may be due either to primitive involvement of myeloid cells, essentially due to occurrence of an interstitial chromosomal deletion on 4q12 leading to creation of the FIP1L1-PDGFRA fusion gene (F/P+ variant, or to increased interleukin (IL-5 production by a clonally expanded T cell population (lymphocytic variant, most frequently characterized by a CD3-CD4+ phenotype. Diagnosis of HES relies on observation of persistent and marked hypereosinophilia responsible for target-organ damage, and exclusion of underlying causes of hypereosinophilia, including allergic and parasitic disorders, solid and hematological malignancies, Churg-Strauss disease, and HTLV infection. Once these criteria are fulfilled, further testing for eventual pathogenic classification is warranted using appropriate cytogenetic and functional approaches. Therapeutic

  20. Nurses and burnout syndrome

    Directory of Open Access Journals (Sweden)

    Zarema Obradović

    2013-04-01

    Full Text Available Introduction: The work of nurses is human. They help people in protection against diseases. Nurses are the largest group of health workers and all problems that appear in the health system are first recognized among them. Burnout syndrome appears among nurses very frequently. We present the leading factors for burnout among nurses in RMC „Dr Safet Mujic“ in Mostar, Bosnia and Herzegovina.Methods: It is a cross sectional descriptive study. We used an anonymous questionnaire with 20 questions. Our sample was random with 30% of all nurses which were working in this Medical Center in January-February 2012.Results: In our study 77.9% nurses work in the hospital. 52% have over 16 years of work experience. 34.6% of examinees are satisfi ed with interpersonal relationships, 31.7 % are satisfi ed with relationships with the superior. Motivation for work have 51% of examinees, a big number comes unwilling on work.For 83.7% overtime work is the reason for dissatisfaction 71.2% examinees think that they can't make progress on work. A high percentage of examinees doesn't think about problems related to work outside working hours, a good sleep have 38.5% and 56.7% wakes up tired. Many of examinees are not satisfiedwith workplace, and 58.7% would like to change it.Conclusion: Nurses employed in RMC „Dr Safet Mujic“ Mostar are exposed to many factors during work which can cause the burnout syndrome. It is necessary to expand the study on a larger group of nurses and to implement the measures for reducing risks of burnout syndrome.

  1. Poland-Möbius syndrome.

    OpenAIRE

    Parker, D. L.; Mitchell, P. R.; Holmes, G. L.

    1981-01-01

    A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.

  2. Vaccination with a Porcine Reproductive and Respiratory Syndrome (PRRS) Modified Live Virus Vaccine Followed by Challenge with PRRS Virus and Porcine Circovirus Type 2 (PCV2) Protects against PRRS but Enhances PCV2 Replication and Pathogenesis Compared to Results for Nonvaccinated Cochallenged Controls

    Science.gov (United States)

    Bawa, Bhupinder; Serão, Nick V. L.; Trible, Benjamin R.; Kerrigan, Maureen A.; Lunney, Joan K.; Dekkers, Jack C. M.; Rowland, Raymond R. R.

    2015-01-01

    Coinfections involving porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circovirus type 2 (PCV2) contribute to a group of disease syndromes known as porcine circovirus-associated disease (PCVAD). Presumably, PRRSV infection enhances PCV2 replication as a result of modulation of host immunity. The purpose of this study was to evaluate PCV2 replication and pathogenesis in pigs vaccinated with a PRRS modified live virus (MLV) vaccine and subsequently challenged with a combination of PRRSV and PCV2. During the early postchallenge period, the number of pigs with PRRSV-associated clinical signs was decreased, and average daily gain (ADG) was increased, in the vaccinated group, demonstrating the protective effect of PRRS vaccination. However, during the later postchallenge period, more pigs in the vaccinated group showed increased PCV2 viremia, decreased ADG, increased PCVAD clinical signs, and increased mortality. In this disease model, the early benefits of PRRSV vaccination were outweighed by the later amplification of PCVAD. PMID:26446422

  3. Leriche Syndrome Presenting as Depression with Erectile Dysfunction

    Science.gov (United States)

    Gautam, Priyanka; Saha, Rashmita

    2016-01-01

    Leriche syndrome results from thrombotic occlusion of the abdominal aorta immediately above the site of its bifurcation. Impotence in leriche syndrome is caused due to proximal obstruction, commonly involving isolated common iliac, internal iliac, internal pudendal or dorsalis penis artery. The symptoms of Leriche syndrome include intermittent and bilateral claudication, pallor, coldness and fatigue in lower extremities. Data regarding psychiatric morbidity in Leriche syndrome is unavailable. We hereby report the case of Leriche syndrome, presenting to psychiatry outpatient department with depressive disorder and erectile dysfunction (ED) with focus on dilemmas faced in the diagnosis and management in psychiatry.

  4. SYNDROME X IN ACUTE CORONARY SYNDROME PATIENTS- A TERTIARY CARE CENTER STUDY

    Directory of Open Access Journals (Sweden)

    Yogendra

    2015-12-01

    Full Text Available Metabolic Syndrome (MS or insulin resistance syndrome is commonly defined as a group of risk factors or abnormalities associated with insulin resistance that markedly increased risk for both coronary heart disease and diabetes. Cardiovascular disease and all-cause mortality, even in the absence of baseline CVD and diabetes. Early identification, treatment and prevention of the metabolic syndrome present a major challenge for health care professionals facing an epidemic of overweight and sedentary lifestyle. AIMS AND OBJECTIVES To study the prevalence of metabolic syndrome in pts. with Acute Coronary Syndrome (ACS and its effect on hospital outcomes. MATERIALS AND METHODS Observational study in 55 cases (28 cases and 27 controls was conducted in Dr. BRAMH, Raipur and each patient was assessed with detailed clinical history and was also assessed for parameters of MS. The cases and controls were also followed up during their hospital stay for the presence of or development of heart failure, arrhythmias, shock and death. Chi square and ‘t’ test were used to analyse obtained data. RESULTS AND CONCLUSIONS In the present study sex ratio amongst the cases was (M:F 1.15:1 and 2.6:1 in controls. Maximum patients were between the ages of 50-60. Non-ST elevation MI was more common in patients with metabolic syndrome and they presented late to the hospital for treatment. Hypertension and fasting hyperglycemia are the most prevalent components of metabolic syndrome in patients of acute coronary syndrome. Our Study also suggests that hypertriglyceridemia is the most common lipid abnormality in patients of acute coronary syndrome. An increase in the incidence of heart failure was observed in patients with metabolic syndrome Cardiogenic shock is seen with increased frequency in patients with metabolic syndrome. Case fatalities were seen with equal frequency in both the groups, hence metabolic syndrome is not associated with increased case fatality while

  5. Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type and Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio

    2012-01-01

    People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…

  6. Results from a 1-year, open-label, single arm, multi-center trial evaluating the efficacy and safety of oral Deferasirox in patients diagnosed with low and int-1 risk myelodysplastic syndrome (MDS) and transfusion-dependent iron overload.

    Science.gov (United States)

    Nolte, F; Höchsmann, B; Giagounidis, A; Lübbert, M; Platzbecker, U; Haase, D; Lück, A; Gattermann, N; Taupitz, M; Baier, M; Leismann, O; Junkes, A; Schumann, C; Hofmann, W K; Schrezenmeier, H

    2013-01-01

    The majority of patients with myelodysplastic syndrome (MDS) present with anemia and will become dependent on regular transfusions of packed red blood cells (PRBC) with the risk of iron overload (IOL). Liver iron content best reflects the total body iron content, and measurement of liver iron concentration (LIC) by MRI is a validated tool for detection, but data in MDS is rather limited. Here we present the results of a multi-center trial evaluating the efficacy and safety of deferasirox (DFX) in low and intermediate-1 risk MDS patients with transfusion-dependent IOL. Three patients with transfusion frequency of > 4 units PRBC per month were initially treated with 30 mg/kg/day while in 46 patients with a lower transfusion burden deferasirox was initiated at 20 mg/kg/day, due to patient related reasons one patient received DFX in a dose of 6 mg/kg/day only. LIC was measured by MRI at baseline and end of study using the method by St. Pierre et al. The intention to treat population consisted of 50 MDS patients (28 male; 22 female) with a median age of 69 years who were treated with DFX for a median duration of 354 days. Mean daily dose of DFX was 19 mg/kg/day. Median serum ferritin level (SF) at baseline was 2,447 ng/mL and decreased to 1,685 ng/mL (reduction by 31 %) at end of study (p = 0.01). In 7 (13 %) patients the initially chosen dose had to be increased due to unsatisfactory efficacy of chelation therapy. For 21 patients, LIC measurement by liver MRI was performed at baseline and for 19 of these patients at the end of study: mean LIC decreased significantly from 16,8 mg/g dry tissue weight (± 8.3 mg/g dry tissue weight) at study entry to 10,8 mg/g dry tissue weight (± 10.4 mg/g dry tissue weight) at end of study (p = 0.01). Of all patients exposed to the study drug (n = 54), 28 (52 %) did not complete the 12 month study period most commonly due to AEs in 28 % (n = 15) and abnormal laboratory values in 7 % (n = 4

  7. The Survivor Syndrome: Aftermath of Downsizing.

    Science.gov (United States)

    Appelbaum, Steven H.; Delage, Claude; Labib, Nadia; Gault, George

    1997-01-01

    Downsizing can result in remaining staff developing "survivor syndrome," experiencing low morale, stress, and other psychosocial problems. If downsizing is necessary, precautions include managing perceptions and communications and empowering employees to take career ownership. (SK)

  8. Chronic Fatigue Syndrome (CFS): Childhood Adversity

    Science.gov (United States)

    ... childhood maltreatment. In particular, for women, emotional and sexual abuse during childhood was associated with a greater risk ... risk for chronic fatigue syndrome: results from a population-based study. Arch Gen Psychiatry. 2006 Nov;63( ...

  9. Abusive Head Trauma (Shaken Baby Syndrome)

    Science.gov (United States)

    ... Things to Know About Zika & Pregnancy Abusive Head Trauma (Shaken Baby Syndrome) KidsHealth > For Parents > Abusive Head ... babies tend to cry the most. How These Injuries Happen Abusive head trauma results from injuries caused ...

  10. Genetics Home Reference: Wiskott-Aldrich syndrome

    Science.gov (United States)

    ... and the foreign invaders that they target (immune synapse). WAS gene mutations that cause Wiskott-Aldrich syndrome ... to respond to their environment and form immune synapses. As a result, white blood cells are less ...

  11. Metabolic syndrome in fixed-shift workers

    Directory of Open Access Journals (Sweden)

    Raquel Canuto

    2015-01-01

    Full Text Available OBJECTIVE To analyze if metabolic syndrome and its altered components are associated with demographic, socioeconomic and behavioral factors in fixed-shift workers. METHODS A cross-sectional study was conducted on a sample of 902 shift workers of both sexes in a poultry processing plant in Southern Brazil in 2010. The diagnosis of metabolic syndrome was determined according to the recommendations from Harmonizing the Metabolic Syndrome. Its frequency was evaluated according to the demographic (sex, skin color, age and marital status, socioeconomic (educational level, income and work shift, and behavioral characteristics (smoking, alcohol intake, leisure time physical activity, number of meals and sleep duration of the sample. The multivariate analysis followed a theoretical framework for identifying metabolic syndrome in fixed-shift workers. RESULTS The prevalence of metabolic syndrome in the sample was 9.3% (95%CI 7.4;11.2. The most frequently altered component was waist circumference (PR 48.4%; 95%CI 45.5;51.2, followed by high-density lipoprotein. Work shift was not associated with metabolic syndrome and its altered components. After adjustment, the prevalence of metabolic syndrome was positively associated with women (PR 2.16; 95%CI 1.28;3.64, workers aged over 40 years (PR 3.90; 95%CI 1.78;8.93 and those who reported sleeping five hours or less per day (PR 1.70; 95%CI 1.09;2.24. On the other hand, metabolic syndrome was inversely associated with educational level and having more than three meals per day (PR 0.43; 95%CI 0.26;0.73. CONCLUSIONS Being female, older and deprived of sleep are probable risk factors for metabolic syndrome, whereas higher educational level and higher number of meals per day are protective factors for metabolic syndrome in fixed-shift workers.

  12. J Wave Syndromes: A Decade of Progress

    Institute of Scientific and Technical Information of China (English)

    Guo-Liang Li; Lin Yang; Chang-Cong Cui; Chao-Feng Sun; Gan-Xin Yan

    2015-01-01

    Objective:The objective was to provide a brief history of J wave syndromes and to summarize our current understanding of their molecular,ionic,cellular mechanisms,and clinical features.We will also discuss the existing debates and further direction in basic and clinical research for J wave syndromes.Data Sources:The publications on key words of"J wave syndromes","early repolarization syndrome (ERS)","Brugada syndrome (BrS)" and "ST-segment elevation myocardial infarction (STEMI)" were comprehensively reviewed through search of the PubMed literatures without restriction on the publication date.Study Selection:Original articles,reviews and other literatures concerning J wave syndromes,ERS,BrS and STEMI were selected.Results:J wave syndromes were firstly defined by Yan et al.in a Chinese journal a decade ago,which represent a spectrum of variable phenotypes characterized by appearance of prominent electrocardiographic J wave including ERS,BrS and ventricular fibrillation (VF) associated with hypothermia and acute STEMI.J wave syndromes can be inherited or acquired and are mechanistically linked to amplification of the transient outward current (Ito)-mediated J waves that can lead to phase 2 reentry capable of initiating VF.Conclusions:J wave syndromes are a group of newly highlighted clinical entities that share similar molecular,ionic and cellular mechanism and marked by amplified J wave on the electrocardiogram and a risk of VF.The clinical challenge ahead is to identify the patients with J wave syndromes who are at risk for sudden cardiac death and determine the alternative therapeutic strategies to reduce mortality.

  13. J Wave Syndromes: A Decade of Progress

    Directory of Open Access Journals (Sweden)

    Guo-Liang Li

    2015-01-01

    Full Text Available Objective: The objective was to provide a brief history of J wave syndromes and to summarize our current understanding of their molecular, ionic, cellular mechanisms, and clinical features. We will also discuss the existing debates and further direction in basic and clinical research for J wave syndromes. Data Sources: The publications on key words of "J wave syndromes", "early repolarization syndrome (ERS", "Brugada syndrome (BrS" and "ST-segment elevation myocardial infarction (STEMI" were comprehensively reviewed through search of the PubMed literatures without restriction on the publication date. Study Selection: Original articles, reviews and other literatures concerning J wave syndromes, ERS, BrS and STEMI were selected. Results: J wave syndromes were firstly defined by Yan et al. in a Chinese journal a decade ago, which represent a spectrum of variable phenotypes characterized by appearance of prominent electrocardiographic J wave including ERS, BrS and ventricular fibrillation (VF associated with hypothermia and acute STEMI. J wave syndromes can be inherited or acquired and are mechanistically linked to amplification of the transient outward current (I to -mediated J waves that can lead to phase 2 reentry capable of initiating VF. Conclusions: J wave syndromes are a group of newly highlighted clinical entities that share similar molecular, ionic and cellular mechanism and marked by amplified J wave on the electrocardiogram and a risk of VF. The clinical challenge ahead is to identify the patients with J wave syndromes who are at risk for sudden cardiac death and determine the alternative therapeutic strategies to reduce mortality.

  14. The burnout syndrome on health care professionals

    Directory of Open Access Journals (Sweden)

    Maria Polikandrioti

    2007-01-01

    Full Text Available Burnout syndrome is referred to the experience of exhaustion and diminished interest, that is manifested by the professionals usually in the work context. Health care proffesionals are often at high risk of burnout syndrome and job dissatisfaction. Burn-out syndrome consists a serious multidimensional phenomenon, because it can lead the professionals of health to psychosomatic problems, work-associated withdrawal behaviour and a lower quality of care. The aim of this review was to study the burn out syndrome of health care professionals. The method of this study included bibliography research from both the review and the research international literature, as well as to Greece and was referred to the "burn out syndrome". Results: Most studies focus on the role of work environment of health care professionals, as the main factor for the development of burn out syndrome, in combination with other factors such as personality, critically ill patients, and organizational structure and staff relationships. Furthermore, the results of this study showed the need for referral to an expert, who deals with emotional problems triggered by the daily contacts with patients and the staff nurse, in order to control the professional stress. Conclusively: Early recognition of burnout phenomenon contributes to better professional behaviour and better health care quality for patients. Health care professionals need knowledge and education about how to beat burnout syndrome.

  15. The scapulocostal syndrome.

    Science.gov (United States)

    Fourie, L J

    1991-06-15

    The scapulocostal syndrome, a hitherto insufficiently understood condition, was clinically studied in 201 cases. The main findings were: (i) pain was the presenting symptom in all cases and was mainly cervicobrachial (90%); (ii) the syndrome is a definable entity within the wide spectrum of fibromyalgia (fibrositis); (iii) the pain originates mainly from an enthesopathy of the serratus posterior superior muscle; and (iv) physical degeneration was present in 76.5% of patients. Conservative treatment, successful in 95.9% of cases, consisted of an intralesional injection of a steroid-analgesic-mixture of 1 ml Celestone-Soluspan (Scherag) plus 1.8 ml Xylotox E80A (Astra), and physical rehabilitation. It was deducted that the dyskinesia was mainly due to an overload of the scapulocostal articulation, forcing the rib cage down to exert a stretching force on the serratus posterior superior muscle. The operation of 'serratotomy' (severing the serratus posterior superior muscle) was performed with excellent results in 6 patients in whom conservative treatment failed, and is described here for the first time. PMID:2047965

  16. Cachexia Syndrome, anorexia patient

    International Nuclear Information System (INIS)

    Introduction: Two thirds of patients (ptes) cancer present slimming recognized a negative prognostic factor. Anorexia cachexia syndrome (SCA) results from the interaction of multiple factors and causes death of 22% of these patients. Nutritional support produces a moderate recovery weight without affecting the underlying metabolic disorders. Objectives: Conduct a review of current knowledge of the underlying pathophysiology and management the cachexia-anorexia syndrome in cancer patients. Designing indications possible policy interventions in the management of these patients. Method: Performed an a literature review on SCA. Conclusions: We identify patients at risk for early implementation of non-pharmacological measures preventive. The control side effects to treatment oncospecific with particular attention to the need for antiemetics, laxatives / antidiarrheal control dental and proper pain management is fundamental. Keep track enteral is a priority. In those with swallowing disorders or dysphagia, nasogastric feeding tube should be considered early. Indications for gastrostomy / jejunostomy and total parenteral nutrition (TPN) are very limited. The NPT is a complementary treatment maneuver a temporary and reversible complication, in order to prevent deterioration

  17. Medial tibial stress syndrome.

    Science.gov (United States)

    Reshef, Noam; Guelich, David R

    2012-04-01

    MTSS is a benign, though painful, condition, and a common problem in the running athlete. It is prevalent among military personnel, runners, and dancers, showing an incidence of 4% to 35%. Common names for this problem include shin splints, soleus syndrome, tibial stress syndrome, and periostitis. The exact cause of this condition is unknown. Previous theories included an inflammatory response of the periosteum or periosteal traction reaction. More recent evidence suggests a painful stress reaction of bone. The most proven risk factors are hyperpronation of the foot, female sex, and history of previous MTSS. Patient evaluation is based on meticulous history taking and physical examination. Even though the diagnosis remains clinical, imaging studies, such as plain radiographs and bone scans are usually sufficient, although MRI is useful in borderline cases to rule out more significant pathology. Conservative treatment is almost always successful and includes several options; though none has proven more superior to rest. Prevention programs do not seem to influence the rate of MTSS, though shock-absorbing insoles have reduced MTSS rates in military personnel, and ESWT has shortened the duration of symptoms. Surgery is rarely indicated but has shown some promising results in patients who have not responded to all conservative options. PMID:22341017

  18. Diamond Blackfan Syndrome

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    Rahul SINHA, Daljit SINGH, Kirandeep SODHI, Y K KIRAN, Biju JOHN

    2010-01-01

    Full Text Available We report a case of Diamond Blackfan syndrome in 6yr old girl who was detected to have severe anaemia on D4 of life. The baby was detected to have polydactyly right hand (preaxial and weak radial pulse on right side. On examination there was severe pallor without hepatosplenomegaly. The investigations revealed haemoglobin of 1.9 gm% with reticulocyte count of 0.3%. Other investigations were done to establish the cause of anaemia. The sickling test was negative, Peripheral blood smear revealed macrocytic anaemia, Hb electrophoresis revealed fetal haemoglobin of 2.7 %. Bone marrow examination revealed markedly reduced erythroid series, stress cytogenetics study done later was negative for any chromosomal breakage. Based on the clinical profile and investigation reports the diagnosis of Diamond Blackfan Syndrome was made. The child was put on corticosteroids which were gradually tapered. Subsequently any attempt at withdrawl of steroids resulted in fall in haemoglobin levels. Hence the child has been maintained on low dose steroids and has remained symptom free.

  19. Complete androgen insensitivity syndrome

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    Tančić-Gajić Milina

    2015-01-01

    Full Text Available Introduction. Androgen insensitivity syndrome (AIS belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY with normally developed testes and age-appropriate for males of serum testosterone concentration. Case Outline. A 21-year-old female patient was admitted at our Clinic further evaluation and treatment of testicular feminization syndrome, which was diagnosed at the age of 16 years. The patient had never menstruated. On physical examination, her external genitalia and breast development appeared as completely normal feminine structures but pubic and axillary hair was absent. Cytogenetic analysis showed a 46 XY karyotype. The values of sex hormones were as in adult males. The multisliced computed tomography (MSCT showed structures on both sides of the pelvic region, suggestive of testes. Bilateral orchiectomy was performed. Hormone replacement therapy was prescribed after gonadectomy. Vaginal dilatation was advised to avoid dyspareunia. Conclusion. The diagnosis of complete androgen insensitivity is based on clinical findigs, hormonal analysis karyotype, visualization methods and genetic analysis. Bilateral gonadectomy is generally recommended in early adulthood to avoid the risk of testicular malignancy. Vaginal length may be short requiring dilatation in an effort to avoid dyspareunia. Vaginal surgery is rarely indicated for the creation of a functional vagina. [Projekat Ministarstva nauke Republike Srbije, br. 175067

  20. POLYCYSTIC OVARY SYNDROME

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    Akula Annapurna

    2013-09-01

    Full Text Available Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to menstrual cycle changes, cysts in the ovaries, trouble getting pregnant, and other health changes. In PCOS, mature eggs are not released from the ovaries. Instead, they can form very small cysts in the ovary. These changes can contribute to infertility. Common symptoms of PCOS include Menstrual disorders, Infertility, High levels of testosterone and Metabolic syndrome. Obesity, sedentary life style with inadequate physical activity, stress, junk food consumption are thought to be contributing factors in addition to genetic origin. In recent years many of the girls and women are suffering from PCOS because of wrong eating habits, stressful living conditions and lack of physical activity. Weight loss has been the major recommendation by physicians for women with PCOS. Lifestyle modifications including stress reduction, moderate exercise, and group support, along with a decrease in total calorie intake and avoiding junk food consumption have had positive results. A decrease of only 5% of total body weight is associated with decreased insulin levels, increased fertility, reduced hirsutism and acne, and lower testosterone levels. Whole grains, fruits and vegetables with foods containing protein and natural fat along with vitamins and minerals are beneficial.